A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152397



Internal ID15874249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13733164..13843493hg38UCSC Ensembl
Innerchr21:15105485..15215814hg19UCSC Ensembl
Innerchr21:14027356..14137685hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38110330
hg19110330
hg18110330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587019
Supporting Variants
SamplesHGDP00513
Known GenesC21orf15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152397
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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