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nsv3890898

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:53,247,014
  • Description:GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 142665 SVs from 144 studies. See in: genome view    
Submitted genomic188,818,195-242,065,208Question Mark
Overlapping variant regions from other studies: 142594 SVs from 144 studies. See in: genome view    
Submitted genomic189,682,921-243,007,359Question Mark
Overlapping variant regions from other studies: 36840 SVs from 40 studies. See in: genome view    
Submitted genomic189,391,166-242,656,032Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3890898Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2188,818,195242,065,208
nsv3890898Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2189,682,921243,007,359
nsv3890898Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2189,391,166242,656,032

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147151copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000052958.5, VCV000059158.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147151Submitted genomicNC_000002.12:g.(?_
188818195)_(242065
208_?)dup
GRCh38 (hg38)NC_000002.12Chr2188,818,195242,065,208
nssv15147151Submitted genomicNC_000002.11:g.(?_
189682921)_(243007
359_?)dup
GRCh37 (hg19)NC_000002.11Chr2189,682,921243,007,359
nssv15147151Submitted genomicNC_000002.10:g.(?_
189391166)_(242656
032_?)dup
NCBI36 (hg18)NC_000002.10Chr2189,391,166242,656,032

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147151GRCh37: NC_000002.11:g.(?_189682921)_(243007359_?)dup, GRCh38: NC_000002.12:g.(?_188818195)_(242065208_?)dup, NCBI36: NC_000002.10:g.(?_189391166)_(242656032_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000052958.5, VCV000059158.13

No genotype data were submitted for this variant

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