A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521717



Internal ID15102324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63876998..63959448hg38UCSC Ensembl
Innerchr2:64104132..64186582hg19UCSC Ensembl
Innerchr2:63957636..64040086hg18UCSC Ensembl
Innerchr2:64015783..64098233hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3882451
hg1982451
hg1882451
hg1782451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694478
Samples
Known GenesUGP2, VPS54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521717
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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