nsv2787135
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,116
- Publication(s):Walker et al. 2017
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2679 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 745 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 1025 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 2679 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1130 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 912 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 1065 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 1607 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv2787135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,626,326 | 32,687,441 |
nsv2787135 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,927,391 | 3,979,316 |
nsv2787135 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,028,260 | 4,065,138 |
nsv2787135 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,870,243 | 3,924,673 |
nsv2787135 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,594,103 | 32,655,218 |
nsv2787135 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,875,828 | 3,930,258 |
nsv2787135 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,933,367 | 3,984,901 |
nsv2787135 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,027,558 | 4,064,436 |
nsv2787135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,702,081 | 32,763,196 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13670034 | copy number loss | CGPQ-184 | SNP array | Genotyping | 30 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13670034 | Remapped | Pass | NT_167247.2:g.(?_3 927391)_(3979316_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,927,391 | 3,979,316 |
nssv13670034 | Remapped | Pass | NT_167249.2:g.(?_4 028260)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,028,260 | 4,065,138 |
nssv13670034 | Remapped | Pass | NT_167245.2:g.(?_3 870243)_(3924673_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,870,243 | 3,924,673 |
nssv13670034 | Remapped | Perfect | NC_000006.12:g.(?_ 32626326)_(3268744 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,626,326 | 32,687,441 |
nssv13670034 | Remapped | Pass | NT_167245.1:g.(?_3 875828)_(3930258_? )delNT_167245.1:g. (?_3875828)_(39302 58_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,875,828 | 3,930,258 |
nssv13670034 | Remapped | Pass | NT_167247.1:g.(?_3 933367)_(3984901_? )delNT_167247.1:g. (?_3933367)_(39849 01_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,933,367 | 3,984,901 |
nssv13670034 | Remapped | Pass | NT_167249.1:g.(?_4 027558)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,027,558 | 4,064,436 |
nssv13670034 | Remapped | Perfect | NC_000006.11:g.(?_ 32594103)_(3265521 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,594,103 | 32,655,218 |
nssv13670034 | Submitted genomic | NC_000006.10:g.(?_ 32702081)_(3276319 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,702,081 | 32,763,196 |