A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152382



Internal ID15531738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31245806..31325049hg38UCSC Ensembl
Innerchr20:29833609..29912852hg19UCSC Ensembl
Innerchr20:29297270..29376513hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3879244
hg1979244
hg1879244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv585909
Supporting Variants
SamplesHGDP01199
Known GenesDEFB115, DEFB116
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152382
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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