A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058645



Internal ID18801176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34353352..34534919hg38UCSC Ensembl
Innerchr21:35725651..35907217hg19UCSC Ensembl
Innerchr21:34647521..34829087hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38181568
hg19181567
hg18181567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4426n100
Supporting Variantsnssv3732702
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)nsv1058645
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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