A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684940



Internal ID15421592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104365978..104446262hg38UCSC Ensembl
Innerchr5:103701679..103781963hg19UCSC Ensembl
Innerchr5:103729578..103809862hg18UCSC Ensembl
Innerchr5:103729578..103809862hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3880285
hg1980285
hg1880285
hg1780285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519706
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684940
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