A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657188



Internal ID15047154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54038008hg38UCSC Ensembl
Innerchr20:52647823..52654547hg19UCSC Ensembl
Innerchr20:52081230..52087954hg18UCSC Ensembl
Innerchr20:52081230..52087954hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386725
hg196725
hg186725
hg176725
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)nssv657188
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