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nsv3884912

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:10,547,178
  • Description:GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 24894 SVs from 120 studies. See in: genome view    
Remapped(Score: Perfect):190,885,476-201,432,653Question Mark
Overlapping variant regions from other studies: 24894 SVs from 120 studies. See in: genome view    
Submitted genomic191,750,202-202,297,376Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3884912RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2190,885,476201,432,653
nsv3884912Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2191,750,202202,297,376

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15152822copy number lossMultipleMultiplenot providedPathogenicClinVarRCV000682165.1, VCV000562676.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15152822RemappedPerfectNC_000002.12:g.(?_
190885476)_(201432
653_?)del
GRCh38.p12First PassNC_000002.12Chr2190,885,476201,432,653
nssv15152822Submitted genomicNC_000002.11:g.(?_
191750202)_(202297
376_?)del
GRCh37 (hg19)NC_000002.11Chr2191,750,202202,297,376

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15152822GRCh37: NC_000002.11:g.(?_191750202)_(202297376_?)delcopy number lossgermlinenot providedPathogenicClinVarRCV000682165.1, VCV000562676.11

No genotype data were submitted for this variant

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