A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946649



Internal ID15893919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33834576..33969278hg38UCSC Ensembl
Innerchr21:35206880..35341579hg19UCSC Ensembl
Innerchr21:34128750..34263449hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38134703
hg19134700
hg18134700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587399
Supporting Variants
Samples
Known GenesATP5O, ITSN1, LINC00649
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946649
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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