A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520496



Internal ID15447789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17556667..17577072hg38UCSC Ensembl
Innerchr20:17537312..17557717hg19UCSC Ensembl
Innerchr20:17485312..17505717hg18UCSC Ensembl
Innerchr20:17485312..17505717hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3820406
hg1920406
hg1820406
hg1720406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671871, nssv675175
Samples
Known GenesBFSP1, DSTN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520496
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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