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nsv7148135

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,131,572
  • Description:GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 5042 SVs from 95 studies. See in: genome view    
Remapped(Score: Perfect):57,208,609-59,340,180Question Mark
Overlapping variant regions from other studies: 5042 SVs from 95 studies. See in: genome view    
Submitted genomic57,675,327-59,806,898Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7148135RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1457,208,60959,340,180
nsv7148135Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1457,675,32759,806,898

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18841890copy number lossMultipleMultiplenot providedUncertain significanceClinVarRCV003326901.1, VCV002578725.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18841890RemappedPerfectNC_000014.9:g.(?_5
7208609)_(59340180
_?)del
GRCh38.p12First PassNC_000014.9Chr1457,208,60959,340,180
nssv18841890Submitted genomicNC_000014.8:g.(?_5
7675327)_(59806898
_?)del
GRCh37 (hg19)NC_000014.8Chr1457,675,32759,806,898

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18841890GRCh37: NC_000014.8:g.(?_57675327)_(59806898_?)delcopy number lossgermlinenot providedUncertain significanceClinVarRCV003326901.1, VCV002578725.11

No genotype data were submitted for this variant

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