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nsv3919788

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:232,109
  • Description:NCBI36/hg18 6p22.1(chr6:29116227-29306898)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 633 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):29,032,391-29,264,457Question Mark
Overlapping variant regions from other studies: 185 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):297,949-530,031Question Mark
Overlapping variant regions from other studies: 186 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):341,750-573,858Question Mark
Overlapping variant regions from other studies: 185 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):297,994-530,069Question Mark
Overlapping variant regions from other studies: 633 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):29,000,168-29,232,234Question Mark
Overlapping variant regions from other studies: 185 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):303,569-535,651Question Mark
Overlapping variant regions from other studies: 185 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):303,579-535,654Question Mark
Overlapping variant regions from other studies: 186 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):341,048-573,156Question Mark
Overlapping variant regions from other studies: 173 SVs from 18 studies. See in: genome view    
Submitted genomic29,108,147-29,340,213Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv3919788RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr629,032,39129,040,47129,231,14229,264,457
nsv3919788RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		297,949297,949530,031530,031
nsv3919788RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		341,750341,750573,858573,858
nsv3919788RemappedGoodGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		297,994297,994530,069530,069
nsv3919788RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr629,000,16829,008,24829,198,91929,232,234
nsv3919788RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		303,569303,569535,651535,651
nsv3919788RemappedGoodGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		303,579303,579535,654535,654
nsv3919788RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		341,048341,048573,156573,156
nsv3919788Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000006.10Chr629,108,14729,116,22729,306,89829,340,213

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15127325copy number lossMultipleMultipleSee casesUncertain significanceClinVarRCV000452181.2, VCV000399665.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15127325RemappedGoodNT_167246.2:g.(297
949_297949)_(53003
1_530031)del		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		297,949297,949530,031530,031
nssv15127325RemappedGoodNT_167249.2:g.(341
750_341750)_(57385
8_573858)del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		341,750341,750573,858573,858
nssv15127325RemappedGoodNT_167245.2:g.(297
994_297994)_(53006
9_530069)del		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		297,994297,994530,069530,069
nssv15127325RemappedPerfectNC_000006.12:g.(29
032391_29040471)_(
29231142_29264457)
del		GRCh38.p12First PassNC_000006.12Chr629,032,39129,040,47129,231,14229,264,457
nssv15127325RemappedGoodNT_167246.1:g.(303
569_303569)_(53565
1_535651)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		303,569303,569535,651535,651
nssv15127325RemappedGoodNT_167245.1:g.(303
579_303579)_(53565
4_535654)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		303,579303,579535,654535,654
nssv15127325RemappedGoodNT_167249.1:g.(341
048_341048)_(57315
6_573156)del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		341,048341,048573,156573,156
nssv15127325RemappedPerfectNC_000006.11:g.(29
000168_29008248)_(
29198919_29232234)
del		GRCh37.p13First PassNC_000006.11Chr629,000,16829,008,24829,198,91929,232,234
nssv15127325Submitted genomicNC_000006.10:g.(29
108147_29116227)_(
29306898_29340213)
del		NCBI36 (hg18)NC_000006.10Chr629,108,14729,116,22729,306,89829,340,213

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15127325NCBI36: NC_000006.10:g.(29108147_29116227)_(29306898_29340213)delcopy number lossnot providedSee casesUncertain significanceClinVarRCV000452181.2, VCV000399665.21

No genotype data were submitted for this variant

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