A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152415



Internal ID15531993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43029231..43063662hg38UCSC Ensembl
Innerchr21:44449341..44483772hg19UCSC Ensembl
Innerchr21:43322410..43356841hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834432
hg1934432
hg1834432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587662
Supporting Variants
SamplesHGDP01240
Known GenesCBS, PKNOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152415
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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