A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159904



Internal ID18956575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64151117..64272526hg38UCSC Ensembl
Outerchr11:64150129..64279169hg38UCSC Ensembl
Innerchr11:63918589..64039998hg19UCSC Ensembl
Outerchr11:63917601..64046641hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38129041
hg19129041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030789
Samples
Known GenesBAD, DNAJC4, FERMT3, FKBP2, MACROD1, NUDT22, PLCB3, PPP1R14B, STIP1, TRPT1, VEGFB
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)nsv1159904
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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