A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520381



Internal ID15100988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134523918..134643239hg38UCSC Ensembl
Innerchr5:133859609..133978929hg19UCSC Ensembl
Innerchr5:133887508..134006828hg18UCSC Ensembl
Innerchr5:133887508..134006828hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38119322
hg19119321
hg18119321
hg17119321
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697961, nssv663447, nssv679505, nssv673349
Samples
Known GenesJADE2, SAR1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520381
Frequency
Sample Size2026
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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