A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523648



Internal ID15104255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49431308..49512130hg38UCSC Ensembl
Innerchr13:50005444..50086266hg19UCSC Ensembl
Innerchr13:48903445..48984267hg18UCSC Ensembl
Innerchr13:48903445..48984267hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3880823
hg1980823
hg1880823
hg1780823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699449
Samples
Known GenesCAB39L, PHF11, SETDB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523648
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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