A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585059



Internal ID16372468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241931913..242090833hg38UCSC Ensembl
Innerchr2:242874064..243032984hg19UCSC Ensembl
Innerchr2:242522737..242681657hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38158921
hg19158921
hg18158921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7399n54
Supporting Variantsnssv934920
Samples
Known GenesLOC728323
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585059
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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