A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067275



Internal ID18809806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34350696..34533684hg38UCSC Ensembl
Innerchr21:35722995..35905982hg19UCSC Ensembl
Innerchr21:34644865..34827852hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38182989
hg19182988
hg18182988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4426n100
Supporting Variantsnssv3600143, nssv3732700, nssv3600144, nssv3600141, nssv3732699, nssv3600140, nssv3600142
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)nsv1067275
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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