A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522002



Internal ID15102609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45122755..45131787hg38UCSC Ensembl
Innerchr21:46542670..46551702hg19UCSC Ensembl
Innerchr21:45367098..45376130hg18UCSC Ensembl
Innerchr21:45367098..45376130hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389033
hg199033
hg189033
hg179033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694771
Samples
Known GenesADARB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522002
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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