A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518340



Internal ID15445633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:55722390..55835879hg38UCSC Ensembl
Innerchr20:54297446..54410935hg19UCSC Ensembl
Innerchr20:53730853..53844342hg18UCSC Ensembl
Innerchr20:53730853..53844342hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38113490
hg19113490
hg18113490
hg17113490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695769
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518340
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