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nsv3884561

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:11,125,011
  • Description:GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 26387 SVs from 120 studies. See in: genome view    
Remapped(Score: Perfect):188,625,763-199,750,773Question Mark
Overlapping variant regions from other studies: 26387 SVs from 120 studies. See in: genome view    
Submitted genomic189,490,490-200,615,496Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3884561RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2188,625,763199,750,773
nsv3884561Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2189,490,490200,615,496

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15162684copy number lossMultipleMultiplenot providedPathogenicClinVarRCV000740789.2, VCV000604153.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15162684RemappedPerfectNC_000002.12:g.(?_
188625763)_(199750
773_?)del
GRCh38.p12First PassNC_000002.12Chr2188,625,763199,750,773
nssv15162684Submitted genomicNC_000002.11:g.(?_
189490490)_(200615
496_?)del
GRCh37 (hg19)NC_000002.11Chr2189,490,490200,615,496

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15162684GRCh37: NC_000002.11:g.(?_189490490)_(200615496_?)delcopy number lossunknownnot providedPathogenicClinVarRCV000740789.2, VCV000604153.21

No genotype data were submitted for this variant

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