A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062402



Internal ID18804933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34350696..34531755hg38UCSC Ensembl
Innerchr21:35722995..35904053hg19UCSC Ensembl
Innerchr21:34644865..34825923hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38181060
hg19181059
hg18181059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4426n100
Supporting Variantsnssv3600139
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)nsv1062402
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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