A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600136



Internal ID18551731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34350696..34527951hg38UCSC Ensembl
Innerchr21:35722995..35900249hg19UCSC Ensembl
Innerchr21:34644865..34822119hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38177256
hg19177255
hg18177255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065540
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)nssv3600136
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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