A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686767



Internal ID15423419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5311440..5318022hg38UCSC Ensembl
Innerchr20:5292086..5298668hg19UCSC Ensembl
Innerchr20:5240086..5246668hg18UCSC Ensembl
Innerchr20:5240086..5246668hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg386583
hg196583
hg186583
hg176583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515639
Supporting Variants
Samples
Known GenesPROKR2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686767
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