A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583158



Internal ID16023881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132558519..133104527hg38UCSC Ensembl
Innerchr2:133316092..133862100hg19UCSC Ensembl
Innerchr2:133032562..133578570hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38546009
hg19546009
hg18546009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920076
Samples
Known GenesGPR39, LYPD1, MIR7853, NCKAP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583158
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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