A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698315



Internal ID15434967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9610981..9611970hg38UCSC Ensembl
Innerchr20:9591628..9592617hg19UCSC Ensembl
Innerchr20:9539628..9540617hg18UCSC Ensembl
Innerchr20:9539628..9540617hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38990
hg19990
hg18990
hg17990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521694
Supporting Variants
Samples
Known GenesPAK7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698315
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