A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581160



Internal ID16368569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20223727..20224964hg38UCSC Ensembl
Innerchr2:20423488..20424725hg19UCSC Ensembl
Innerchr2:20286969..20288206hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381238
hg191238
hg181238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904420, nssv904421
Samples
Known GenesSDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581160
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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