A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600137



Internal ID18551732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34350696..34528992hg38UCSC Ensembl
Innerchr21:35722995..35901290hg19UCSC Ensembl
Innerchr21:34644865..34823160hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38178297
hg19178296
hg18178296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058046
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)nssv3600137
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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