A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520269



Internal ID15100876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30735271..30765509hg38UCSC Ensembl
Innerchr2:30958137..30988375hg19UCSC Ensembl
Innerchr2:30811641..30841879hg18UCSC Ensembl
Innerchr2:30869788..30900026hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3830239
hg1930239
hg1830239
hg1730239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662275, nssv681873
Samples
Known GenesCAPN13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520269
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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