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nsv6291774

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:181,157
  • Description:GRCh37/hg19 19p13.2(chr19:12061304-12242460)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 580 SVs from 64 studies. See in: genome view    
Remapped(Score: Perfect):11,950,489-12,131,645Question Mark
Overlapping variant regions from other studies: 580 SVs from 64 studies. See in: genome view    
Submitted genomic12,061,304-12,242,460Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6291774RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000019.10Chr1911,950,48912,131,645
nsv6291774Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr1912,061,30412,242,460

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957476copy number lossMultipleMultiplenot providedUncertain significanceClinVarRCV001827683.1, VCV001340169.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17957476RemappedPerfectNC_000019.10:g.(?_
11950489)_(1213164
5_?)del
GRCh38.p12First PassNC_000019.10Chr1911,950,48912,131,645
nssv17957476Submitted genomicNC_000019.9:g.(?_1
2061304)_(12242460
_?)del
GRCh37 (hg19)NC_000019.9Chr1912,061,30412,242,460

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957476GRCh37: NC_000019.9:g.(?_12061304)_(12242460_?)delcopy number lossgermlinenot providedUncertain significanceClinVarRCV001827683.1, VCV001340169.11

No genotype data were submitted for this variant

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