A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583692



Internal ID16371101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177973464..177980901hg38UCSC Ensembl
Innerchr2:178838191..178845628hg19UCSC Ensembl
Innerchr2:178546437..178553874hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg387438
hg197438
hg187438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7176n54
Supporting Variantsnssv926999
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583692
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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