A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691540



Internal ID15081506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031291..54038172hg38UCSC Ensembl
Innerchr20:52647830..52654711hg19UCSC Ensembl
Innerchr20:52081237..52088118hg18UCSC Ensembl
Innerchr20:52081237..52088118hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386882
hg196882
hg186882
hg176882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517164
Supporting Variants
Samples
Known GenesBCAS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691540
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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