A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516848



Internal ID15097455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149490537..149522775hg38UCSC Ensembl
Innerchr5:148870100..148902338hg19UCSC Ensembl
Innerchr5:148850293..148882531hg18UCSC Ensembl
Innerchr5:148850293..148882531hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3832239
hg1932239
hg1832239
hg1732239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675709, nssv680174, nssv692456, nssv654412
Samples
Known GenesCSNK1A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516848
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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