A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528264



Internal ID15108871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33437700..33465479hg38UCSC Ensembl
Innerchr21:34810007..34837786hg19UCSC Ensembl
Innerchr21:33731877..33759656hg18UCSC Ensembl
Innerchr21:33731877..33759656hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3827780
hg1927780
hg1827780
hg1727780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704832
Samples
Known GenesTMEM50B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528264
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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