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nsv6313670

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:11,564,661
  • Description:GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 28886 SVs from 129 studies. See in: genome view    
Remapped(Score: Perfect):27,468,213-39,032,873Question Mark
Overlapping variant regions from other studies: 28887 SVs from 129 studies. See in: genome view    
Submitted genomic27,507,832-39,072,473Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6313670RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr727,468,21339,032,873
nsv6313670Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr727,507,83239,072,473

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970205copy number gainMultipleMultiplenot specifiedLikely pathogenicClinVarRCV002053677.3, VCV001527345.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17970205RemappedPerfectNC_000007.14:g.(?_
27468213)_(3903287
3_?)dup
GRCh38.p12First PassNC_000007.14Chr727,468,21339,032,873
nssv17970205Submitted genomicNC_000007.13:g.(?_
27507832)_(3907247
3_?)dup
GRCh37 (hg19)NC_000007.13Chr727,507,83239,072,473

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970205GRCh37: NC_000007.13:g.(?_27507832)_(39072473_?)dupcopy number gaingermlinenot specifiedLikely pathogenicClinVarRCV002053677.3, VCV001527345.3

No genotype data were submitted for this variant

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