A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590272



Internal ID16030995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50498842..50578618hg38UCSC Ensembl
Innerchr3:50536273..50616049hg19UCSC Ensembl
Innerchr3:50511277..50591053hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3879777
hg1979777
hg1879777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151773
SamplesHGDP01147
Known GenesC3orf18, CACNA2D2, HEMK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590272
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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