A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160691



Internal ID18955828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63953716..64047196hg38UCSC Ensembl
Outerchr20:63943650..64055199hg38UCSC Ensembl
Innerchr20:62585069..62678549hg19UCSC Ensembl
Outerchr20:62575003..62686552hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38111550
hg19111550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040308
Samples
Known GenesLINC00176, PRPF6, SAMD10, SOX18, UCKL1, UCKL1-AS1, ZNF512B
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1160691
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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