A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581475



Internal ID16022198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37857417..37950382hg38UCSC Ensembl
Innerchr2:38084560..38177525hg19UCSC Ensembl
Innerchr2:37938064..38031029hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3892966
hg1992966
hg1892966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6787n54
Supporting Variantsnssv906864
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581475
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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