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nsv4455156

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:7,549,337
  • Description:GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 40894 SVs from 133 studies. See in: genome view    
Remapped(Score: Good):99,327,893-106,877,229Question Mark
Overlapping variant regions from other studies: 38560 SVs from 133 studies. See in: genome view    
Submitted genomic99,794,230-107,285,437Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4455156RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1499,327,893106,877,229
nsv4455156Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1499,794,230107,285,437

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15777234copy number gainMultipleMultiplenot providedPathogenicClinVarRCV000849272.2, VCV000688581.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15777234RemappedGoodNC_000014.9:g.(?_9
9327893)_(10687722
9_?)dup
GRCh38.p12First PassNC_000014.9Chr1499,327,893106,877,229
nssv15777234Submitted genomicNC_000014.8:g.(?_9
9794230)_(10728543
7_?)dup
GRCh37 (hg19)NC_000014.8Chr1499,794,230107,285,437

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15777234GRCh37: NC_000014.8:g.(?_99794230)_(107285437_?)dupcopy number gainunknownnot providedPathogenicClinVarRCV000849272.2, VCV000688581.23

No genotype data were submitted for this variant

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