A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058046



Internal ID18800577
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 StatusM
Merged Variantsdgv4426n100
Supporting Variantsnssv3600137, nssv3600138
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)nsv1058046
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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