A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697274



Internal ID15087240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21047878..21211329hg38UCSC Ensembl
Innerchr5:21047987..21211438hg19UCSC Ensembl
Innerchr5:21083744..21247195hg18UCSC Ensembl
Innerchr5:21083744..21247195hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38163452
hg19163452
hg18163452
hg17163452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520196
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697274
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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