A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703457



Internal ID15440109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138643469..138651750hg38UCSC Ensembl
Innerchr5:137979158..137987439hg19UCSC Ensembl
Innerchr5:138007057..138015338hg18UCSC Ensembl
Innerchr5:138007057..138015338hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388282
hg198282
hg188282
hg178282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527078
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703457
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