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nsv6314141

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:33,223
  • Description:GRCh37/hg19 16q12.2(chr16:56521157-56554379) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 111 SVs from 40 studies. See in: genome view    
Remapped(Score: Perfect):56,487,245-56,520,467Question Mark
Overlapping variant regions from other studies: 111 SVs from 40 studies. See in: genome view    
Submitted genomic56,521,157-56,554,379Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6314141RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1656,487,24556,520,467
nsv6314141Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1656,521,15756,554,379

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969067copy number lossMultipleMultiplenot specifiedUncertain significanceClinVarRCV002052531.3, VCV001526512.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17969067RemappedPerfectNC_000016.10:g.(?_
56487245)_(5652046
7_?)del
GRCh38.p12First PassNC_000016.10Chr1656,487,24556,520,467
nssv17969067Submitted genomicNC_000016.9:g.(?_5
6521157)_(56554379
_?)del
GRCh37 (hg19)NC_000016.9Chr1656,521,15756,554,379

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969067GRCh37: NC_000016.9:g.(?_56521157)_(56554379_?)delcopy number lossgermlinenot specifiedUncertain significanceClinVarRCV002052531.3, VCV001526512.3

No genotype data were submitted for this variant

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