A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063676



Internal ID18806207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32495514..32634776hg38UCSC Ensembl
Innerchr21:33867824..34007086hg19UCSC Ensembl
Innerchr21:32789695..32928957hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38139263
hg19139263
hg18139263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600129
Samples
Known GenesC21orf59, EVA1C, SYNJ1, TCP10L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063676
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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