A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583916



Internal ID16371325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182305789..182339642hg38UCSC Ensembl
Innerchr2:183170516..183204369hg19UCSC Ensembl
Innerchr2:182878761..182912614hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3833854
hg1933854
hg1833854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150795, nssv1150794, nssv1150796, nssv1150793, nssv1150792
SamplesHGDP01007, HGDP01012, HGDP01003, HGDP00996, HGDP01011
Known GenesPDE1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583916
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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