A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151245



Internal ID15878207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46436193..46565742hg38UCSC Ensembl
Innerchr21:47856106..47985655hg19UCSC Ensembl
Innerchr21:46680534..46810083hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129550
hg19129550
hg18129550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587998
Supporting Variants
SamplesHGDP01156
Known GenesDIP2A, DIP2A-IT1, PCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151245
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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