A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662381



Internal ID15052347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54038172hg38UCSC Ensembl
Innerchr20:52647823..52654711hg19UCSC Ensembl
Innerchr20:52081230..52088118hg18UCSC Ensembl
Innerchr20:52081230..52088118hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
hg176889
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)nssv662381
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