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nsv3907590

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:8,893
  • Description:GRCh37/hg19 16q12.2(chr16:55842404-55851296)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 335 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):55,808,492-55,817,384Question Mark
Overlapping variant regions from other studies: 335 SVs from 69 studies. See in: genome view    
Submitted genomic55,842,404-55,851,296Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3907590RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1655,808,49255,817,384
nsv3907590Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1655,842,40455,851,296

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15158889copy number lossMultipleMultiplenot providedBenignClinVarRCV000739157.2, VCV000602521.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15158889RemappedPerfectNC_000016.10:g.(?_
55808492)_(5581738
4_?)del
GRCh38.p12First PassNC_000016.10Chr1655,808,49255,817,384
nssv15158889Submitted genomicNC_000016.9:g.(?_5
5842404)_(55851296
_?)del
GRCh37 (hg19)NC_000016.9Chr1655,842,40455,851,296

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15158889GRCh37: NC_000016.9:g.(?_55842404)_(55851296_?)delcopy number lossunknownnot providedBenignClinVarRCV000739157.2, VCV000602521.21

No genotype data were submitted for this variant

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