A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518039



Internal ID15098646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149490537..149559672hg38UCSC Ensembl
Innerchr5:148870100..148939235hg19UCSC Ensembl
Innerchr5:148850293..148919428hg18UCSC Ensembl
Innerchr5:148850293..148919428hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3869136
hg1969136
hg1869136
hg1769136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695450
Samples
Known GenesCSNK1A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518039
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer