A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590912



Internal ID16378321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85868139..85957060hg38UCSC Ensembl
Innerchr3:85917289..86006210hg19UCSC Ensembl
Innerchr3:85999979..86088900hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3888922
hg1988922
hg1888922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8425n54
Supporting Variantsnssv1152495, nssv1152494
Samples1782681169_A, 1780854061_A
Known GenesCADM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590912
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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