A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700072



Internal ID15436724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43738398..43743718hg38UCSC Ensembl
Innerchr17:41815766..41821086hg19UCSC Ensembl
Innerchr17:39171292..39176612hg18UCSC Ensembl
Innerchr17:39171292..39176612hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385321
hg195321
hg185321
hg175321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524189
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700072
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