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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1930172

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:54440700 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.475526 (125867/264690, TOPMED)
T=0.499170 (69747/139726, GnomAD)
T=0.08051 (2275/28258, 14KJPN) (+ 13 more)
A=0.47014 (8881/18890, ALFA)
T=0.08192 (1373/16760, 8.3KJPN)
T=0.3509 (2247/6404, 1000G_30x)
T=0.3472 (1739/5008, 1000G)
A=0.4307 (1660/3854, ALSPAC)
A=0.4318 (1601/3708, TWINSUK)
T=0.0737 (216/2930, KOREAN)
A=0.410 (409/998, GoNL)
A=0.385 (231/600, NorthernSweden)
A=0.361 (86/238, SGDP_PRJ)
T=0.472 (102/216, Qatari)
T=0.095 (20/210, Vietnamese)
A=0.29 (7/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PCDH15 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 A=0.47014 T=0.52986
European Sub 14286 A=0.43399 T=0.56601
African Sub 2946 A=0.5526 T=0.4474
African Others Sub 114 A=0.491 T=0.509
African American Sub 2832 A=0.5551 T=0.4449
Asian Sub 112 A=0.902 T=0.098
East Asian Sub 86 A=0.95 T=0.05
Other Asian Sub 26 A=0.73 T=0.27
Latin American 1 Sub 146 A=0.507 T=0.493
Latin American 2 Sub 610 A=0.707 T=0.293
South Asian Sub 98 A=0.78 T=0.22
Other Sub 692 A=0.536 T=0.464


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.524474 T=0.475526
gnomAD - Genomes Global Study-wide 139726 A=0.500830 T=0.499170
gnomAD - Genomes European Sub 75670 A=0.43227 T=0.56773
gnomAD - Genomes African Sub 41916 A=0.56124 T=0.43876
gnomAD - Genomes American Sub 13570 A=0.61304 T=0.38696
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.4500 T=0.5500
gnomAD - Genomes East Asian Sub 3114 A=0.9136 T=0.0864
gnomAD - Genomes Other Sub 2134 A=0.5084 T=0.4916
14KJPN JAPANESE Study-wide 28258 A=0.91949 T=0.08051
Allele Frequency Aggregator Total Global 18890 A=0.47014 T=0.52986
Allele Frequency Aggregator European Sub 14286 A=0.43399 T=0.56601
Allele Frequency Aggregator African Sub 2946 A=0.5526 T=0.4474
Allele Frequency Aggregator Other Sub 692 A=0.536 T=0.464
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.707 T=0.293
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.507 T=0.493
Allele Frequency Aggregator Asian Sub 112 A=0.902 T=0.098
Allele Frequency Aggregator South Asian Sub 98 A=0.78 T=0.22
8.3KJPN JAPANESE Study-wide 16760 A=0.91808 T=0.08192
1000Genomes_30x Global Study-wide 6404 A=0.6491 T=0.3509
1000Genomes_30x African Sub 1786 A=0.5901 T=0.4099
1000Genomes_30x Europe Sub 1266 A=0.4044 T=0.5956
1000Genomes_30x South Asian Sub 1202 A=0.7072 T=0.2928
1000Genomes_30x East Asian Sub 1170 A=0.9325 T=0.0675
1000Genomes_30x American Sub 980 A=0.663 T=0.337
1000Genomes Global Study-wide 5008 A=0.6528 T=0.3472
1000Genomes African Sub 1322 A=0.5893 T=0.4107
1000Genomes East Asian Sub 1008 A=0.9286 T=0.0714
1000Genomes Europe Sub 1006 A=0.4085 T=0.5915
1000Genomes South Asian Sub 978 A=0.697 T=0.303
1000Genomes American Sub 694 A=0.664 T=0.336
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4307 T=0.5693
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4318 T=0.5682
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9263 T=0.0737
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.410 T=0.590
Northern Sweden ACPOP Study-wide 600 A=0.385 T=0.615
SGDP_PRJ Global Study-wide 238 A=0.361 T=0.639
Qatari Global Study-wide 216 A=0.528 T=0.472
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.905 T=0.095
Siberian Global Study-wide 24 A=0.29 T=0.71
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.54440700A>T
GRCh37.p13 chr 10 NC_000010.10:g.56200460A>T
PCDH15 RefSeqGene NG_009191.3:g.1193483T>A
Gene: PCDH15, protocadherin related 15 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PCDH15 transcript variant A NM_001142763.2:c.173-6175…

NM_001142763.2:c.173-61758T>A

N/A Intron Variant
PCDH15 transcript variant B NM_001142764.2:c.158-6175…

NM_001142764.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant D NM_001142765.2:c.158-6175…

NM_001142765.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant E NM_001142766.2:c.158-6175…

NM_001142766.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant F NM_001142767.2:c.158-6175…

NM_001142767.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant G NM_001142768.2:c.92-61758…

NM_001142768.2:c.92-61758T>A

N/A Intron Variant
PCDH15 transcript variant I NM_001142769.3:c.173-6175…

NM_001142769.3:c.173-61758T>A

N/A Intron Variant
PCDH15 transcript variant J NM_001142770.3:c.158-6175…

NM_001142770.3:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant K NM_001142771.2:c.173-6175…

NM_001142771.2:c.173-61758T>A

N/A Intron Variant
PCDH15 transcript variant L NM_001142772.2:c.158-6175…

NM_001142772.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant H NM_001142773.2:c.92-61758…

NM_001142773.2:c.92-61758T>A

N/A Intron Variant
PCDH15 transcript variant M NM_001354404.2:c.92-61758…

NM_001354404.2:c.92-61758T>A

N/A Intron Variant
PCDH15 transcript variant N NM_001354411.2:c.158-6175…

NM_001354411.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant O NM_001354420.2:c.158-6175…

NM_001354420.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant P NM_001354429.2:c.158-6175…

NM_001354429.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant Q NM_001354430.2:c.158-6175…

NM_001354430.2:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant R NM_001384140.1:c.158-6175…

NM_001384140.1:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant C NM_033056.4:c.158-61758T>A N/A Intron Variant
PCDH15 transcript variant X1 XM_047425663.1:c.158-6175…

XM_047425663.1:c.158-61758T>A

N/A Intron Variant
PCDH15 transcript variant X2 XM_047425664.1:c.173-6175…

XM_047425664.1:c.173-61758T>A

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= T
GRCh38.p14 chr 10 NC_000010.11:g.54440700= NC_000010.11:g.54440700A>T
GRCh37.p13 chr 10 NC_000010.10:g.56200460= NC_000010.10:g.56200460A>T
PCDH15 RefSeqGene NG_009191.3:g.1193483= NG_009191.3:g.1193483T>A
PCDH15 transcript variant A NM_001142763.1:c.173-61758= NM_001142763.1:c.173-61758T>A
PCDH15 transcript variant A NM_001142763.2:c.173-61758= NM_001142763.2:c.173-61758T>A
PCDH15 transcript variant B NM_001142764.1:c.158-61758= NM_001142764.1:c.158-61758T>A
PCDH15 transcript variant B NM_001142764.2:c.158-61758= NM_001142764.2:c.158-61758T>A
PCDH15 transcript variant D NM_001142765.1:c.158-61758= NM_001142765.1:c.158-61758T>A
PCDH15 transcript variant D NM_001142765.2:c.158-61758= NM_001142765.2:c.158-61758T>A
PCDH15 transcript variant E NM_001142766.1:c.158-61758= NM_001142766.1:c.158-61758T>A
PCDH15 transcript variant E NM_001142766.2:c.158-61758= NM_001142766.2:c.158-61758T>A
PCDH15 transcript variant F NM_001142767.1:c.158-61758= NM_001142767.1:c.158-61758T>A
PCDH15 transcript variant F NM_001142767.2:c.158-61758= NM_001142767.2:c.158-61758T>A
PCDH15 transcript variant G NM_001142768.1:c.92-61758= NM_001142768.1:c.92-61758T>A
PCDH15 transcript variant G NM_001142768.2:c.92-61758= NM_001142768.2:c.92-61758T>A
PCDH15 transcript variant I NM_001142769.1:c.173-61758= NM_001142769.1:c.173-61758T>A
PCDH15 transcript variant I NM_001142769.3:c.173-61758= NM_001142769.3:c.173-61758T>A
PCDH15 transcript variant J NM_001142770.1:c.158-61758= NM_001142770.1:c.158-61758T>A
PCDH15 transcript variant J NM_001142770.3:c.158-61758= NM_001142770.3:c.158-61758T>A
PCDH15 transcript variant K NM_001142771.1:c.173-61758= NM_001142771.1:c.173-61758T>A
PCDH15 transcript variant K NM_001142771.2:c.173-61758= NM_001142771.2:c.173-61758T>A
PCDH15 transcript variant L NM_001142772.1:c.158-61758= NM_001142772.1:c.158-61758T>A
PCDH15 transcript variant L NM_001142772.2:c.158-61758= NM_001142772.2:c.158-61758T>A
PCDH15 transcript variant H NM_001142773.1:c.92-61758= NM_001142773.1:c.92-61758T>A
PCDH15 transcript variant H NM_001142773.2:c.92-61758= NM_001142773.2:c.92-61758T>A
PCDH15 transcript variant M NM_001354404.2:c.92-61758= NM_001354404.2:c.92-61758T>A
PCDH15 transcript variant N NM_001354411.2:c.158-61758= NM_001354411.2:c.158-61758T>A
PCDH15 transcript variant O NM_001354420.2:c.158-61758= NM_001354420.2:c.158-61758T>A
PCDH15 transcript variant P NM_001354429.2:c.158-61758= NM_001354429.2:c.158-61758T>A
PCDH15 transcript variant Q NM_001354430.2:c.158-61758= NM_001354430.2:c.158-61758T>A
PCDH15 transcript variant R NM_001384140.1:c.158-61758= NM_001384140.1:c.158-61758T>A
PCDH15 transcript variant C NM_033056.3:c.158-61758= NM_033056.3:c.158-61758T>A
PCDH15 transcript variant C NM_033056.4:c.158-61758= NM_033056.4:c.158-61758T>A
PCDH15 transcript variant X1 XM_005270056.1:c.158-61758= XM_005270056.1:c.158-61758T>A
PCDH15 transcript variant X2 XM_005270057.1:c.158-61758= XM_005270057.1:c.158-61758T>A
PCDH15 transcript variant X3 XM_005270058.1:c.158-61758= XM_005270058.1:c.158-61758T>A
PCDH15 transcript variant X1 XM_047425663.1:c.158-61758= XM_047425663.1:c.158-61758T>A
PCDH15 transcript variant X2 XM_047425664.1:c.173-61758= XM_047425664.1:c.173-61758T>A
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

60 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2818313 Jan 12, 2001 (92)
2 TSC-CSHL ss5560397 Oct 08, 2002 (108)
3 SC_JCM ss6051460 Feb 20, 2003 (111)
4 SC_SNP ss15872116 Feb 27, 2004 (120)
5 SSAHASNP ss20613134 Apr 05, 2004 (124)
6 ABI ss38523244 Mar 15, 2006 (126)
7 HGSV ss78763801 Dec 06, 2007 (129)
8 HUMANGENOME_JCVI ss97556590 Feb 06, 2009 (130)
9 ENSEMBL ss137980583 Dec 01, 2009 (131)
10 BUSHMAN ss201532970 Jul 04, 2010 (132)
11 1000GENOMES ss210973995 Jul 14, 2010 (132)
12 1000GENOMES ss224730779 Jul 14, 2010 (132)
13 1000GENOMES ss235178998 Jul 15, 2010 (132)
14 1000GENOMES ss241884889 Jul 15, 2010 (132)
15 GMI ss280621084 May 04, 2012 (137)
16 GMI ss286191530 Apr 25, 2013 (138)
17 PJP ss290839677 May 09, 2011 (134)
18 SSMP ss656743482 Apr 25, 2013 (138)
19 EVA-GONL ss987499813 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1076993185 Aug 21, 2014 (142)
21 1000GENOMES ss1337486357 Aug 21, 2014 (142)
22 DDI ss1426323769 Apr 01, 2015 (144)
23 EVA_DECODE ss1597164008 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1624592427 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1667586460 Apr 01, 2015 (144)
26 HAMMER_LAB ss1806393920 Sep 08, 2015 (146)
27 WEILL_CORNELL_DGM ss1930862696 Feb 12, 2016 (147)
28 JJLAB ss2026152778 Sep 14, 2016 (149)
29 USC_VALOUEV ss2154426033 Dec 20, 2016 (150)
30 GRF ss2698669584 Nov 08, 2017 (151)
31 GNOMAD ss2888923556 Nov 08, 2017 (151)
32 SWEGEN ss3006496039 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3026866041 Nov 08, 2017 (151)
34 CSHL ss3349126335 Nov 08, 2017 (151)
35 URBANLAB ss3649373542 Oct 12, 2018 (152)
36 EVA_DECODE ss3689902828 Jul 13, 2019 (153)
37 ACPOP ss3737329719 Jul 13, 2019 (153)
38 EVA ss3748116813 Jul 13, 2019 (153)
39 PACBIO ss3786674024 Jul 13, 2019 (153)
40 PACBIO ss3791854054 Jul 13, 2019 (153)
41 PACBIO ss3796736042 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3813490841 Jul 13, 2019 (153)
43 EVA ss3832129592 Apr 26, 2020 (154)
44 EVA ss3839601485 Apr 26, 2020 (154)
45 EVA ss3845073355 Apr 26, 2020 (154)
46 SGDP_PRJ ss3874236093 Apr 26, 2020 (154)
47 KRGDB ss3922297590 Apr 26, 2020 (154)
48 TOPMED ss4852837295 Apr 27, 2021 (155)
49 TOMMO_GENOMICS ss5197692088 Apr 27, 2021 (155)
50 1000G_HIGH_COVERAGE ss5284087772 Oct 16, 2022 (156)
51 EVA ss5393541904 Oct 16, 2022 (156)
52 HUGCELL_USP ss5479661070 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5578051063 Oct 16, 2022 (156)
54 SANFORD_IMAGENETICS ss5649308967 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5743540951 Oct 16, 2022 (156)
56 YY_MCH ss5811542638 Oct 16, 2022 (156)
57 EVA ss5824411637 Oct 16, 2022 (156)
58 EVA ss5849570219 Oct 16, 2022 (156)
59 EVA ss5878949986 Oct 16, 2022 (156)
60 EVA ss5940576087 Oct 16, 2022 (156)
61 1000Genomes NC_000010.10 - 56200460 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000010.11 - 54440700 Oct 16, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 56200460 Oct 12, 2018 (152)
64 gnomAD - Genomes NC_000010.11 - 54440700 Apr 27, 2021 (155)
65 Genome of the Netherlands Release 5 NC_000010.10 - 56200460 Apr 26, 2020 (154)
66 KOREAN population from KRGDB NC_000010.10 - 56200460 Apr 26, 2020 (154)
67 Northern Sweden NC_000010.10 - 56200460 Jul 13, 2019 (153)
68 Qatari NC_000010.10 - 56200460 Apr 26, 2020 (154)
69 SGDP_PRJ NC_000010.10 - 56200460 Apr 26, 2020 (154)
70 Siberian NC_000010.10 - 56200460 Apr 26, 2020 (154)
71 8.3KJPN NC_000010.10 - 56200460 Apr 27, 2021 (155)
72 14KJPN NC_000010.11 - 54440700 Oct 16, 2022 (156)
73 TopMed NC_000010.11 - 54440700 Apr 27, 2021 (155)
74 UK 10K study - Twins NC_000010.10 - 56200460 Oct 12, 2018 (152)
75 A Vietnamese Genetic Variation Database NC_000010.10 - 56200460 Jul 13, 2019 (153)
76 ALFA NC_000010.11 - 54440700 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs12761005 Dec 02, 2004 (124)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78763801 NC_000010.8:55870465:A:T NC_000010.11:54440699:A:T (self)
ss201532970, ss210973995, ss280621084, ss286191530, ss290839677, ss1597164008 NC_000010.9:55870465:A:T NC_000010.11:54440699:A:T (self)
49875429, 27681860, 12343313, 29474984, 10614584, 12904626, 26253073, 6942387, 55661395, 27681860, 6145820, ss224730779, ss235178998, ss241884889, ss656743482, ss987499813, ss1076993185, ss1337486357, ss1426323769, ss1624592427, ss1667586460, ss1806393920, ss1930862696, ss2026152778, ss2154426033, ss2698669584, ss2888923556, ss3006496039, ss3349126335, ss3737329719, ss3748116813, ss3786674024, ss3791854054, ss3796736042, ss3832129592, ss3839601485, ss3874236093, ss3922297590, ss5197692088, ss5393541904, ss5649308967, ss5824411637, ss5940576087 NC_000010.10:56200459:A:T NC_000010.11:54440699:A:T (self)
65576998, 352566853, 77378055, 68382950, 6199081644, ss3026866041, ss3649373542, ss3689902828, ss3813490841, ss3845073355, ss4852837295, ss5284087772, ss5479661070, ss5578051063, ss5743540951, ss5811542638, ss5849570219, ss5878949986 NC_000010.11:54440699:A:T NC_000010.11:54440699:A:T (self)
ss15872116, ss20613134 NT_008583.16:4751614:A:T NC_000010.11:54440699:A:T (self)
ss2818313, ss5560397, ss6051460, ss38523244, ss97556590, ss137980583 NT_030059.13:7004923:A:T NC_000010.11:54440699:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1930172

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07