A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697048



Internal ID15433700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56981100..56988136hg38UCSC Ensembl
Innerchr20:55556156..55563192hg19UCSC Ensembl
Innerchr20:54989563..54996599hg18UCSC Ensembl
Innerchr20:54989563..54996599hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg387037
hg197037
hg187037
hg177037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519781
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697048
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