A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583697



Internal ID16371106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177974154..177981028hg38UCSC Ensembl
Innerchr2:178838881..178845755hg19UCSC Ensembl
Innerchr2:178547127..178554001hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386875
hg196875
hg186875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7176n54
Supporting Variantsnssv927005
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583697
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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