A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582174



Internal ID16022897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68653304..68674476hg38UCSC Ensembl
Innerchr2:68880436..68901608hg19UCSC Ensembl
Innerchr2:68733940..68755112hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3821173
hg1921173
hg1821173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv911679
Samples
Known GenesPROKR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582174
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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