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nsv4729605

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:643,476
  • Description:GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 1629 SVs from 72 studies. See in: genome view    
Remapped(Score: Perfect):66,832,140-67,475,615Question Mark
Overlapping variant regions from other studies: 1629 SVs from 72 studies. See in: genome view    
Submitted genomic67,744,375-68,387,850Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4729605RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr866,832,14067,475,615
nsv4729605Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr867,744,37568,387,850

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16254772copy number gainMultipleMultiplenot providedUncertain significanceClinVarRCV001258413.1, VCV000979237.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16254772RemappedPerfectNC_000008.11:g.(?_
66832140)_(6747561
5_?)dup
GRCh38.p12First PassNC_000008.11Chr866,832,14067,475,615
nssv16254772Submitted genomicNC_000008.10:g.(?_
67744375)_(6838785
0_?)dup
GRCh37 (hg19)NC_000008.10Chr867,744,37568,387,850

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16254772GRCh37: NC_000008.10:g.(?_67744375)_(68387850_?)dupcopy number gaingermlinenot providedUncertain significanceClinVarRCV001258413.1, VCV000979237.13

No genotype data were submitted for this variant

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