A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3732701



Internal ID18684296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34350696..34534919hg38UCSC Ensembl
Innerchr21:35722995..35907217hg19UCSC Ensembl
Innerchr21:34644865..34829087hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38184224
hg19184223
hg18184223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061535
Supporting Variants
Samples
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3732701
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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