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nsv3903410

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:28,553,395
  • Description:GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 90657 SVs from 138 studies. See in: genome view    
Remapped(Score: Perfect):664,936-29,218,330Question Mark
Overlapping variant regions from other studies: 90661 SVs from 138 studies. See in: genome view    
Submitted genomic704,573-29,257,946Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3903410RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7664,93629,218,330
nsv3903410Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7704,57329,257,946

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161658copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000510275.2, VCV000442824.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15161658RemappedPerfectNC_000007.14:g.(?_
664936)_(29218330_
?)dup
GRCh38.p12First PassNC_000007.14Chr7664,93629,218,330
nssv15161658Submitted genomicNC_000007.13:g.(?_
704573)_(29257946_
?)dup
GRCh37 (hg19)NC_000007.13Chr7704,57329,257,946

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161658GRCh37: NC_000007.13:g.(?_704573)_(29257946_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000510275.2, VCV000442824.23

No genotype data were submitted for this variant

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