A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160751



Internal ID18957682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33457036..33476871hg38UCSC Ensembl
Outerchr22:33452024..33482815hg38UCSC Ensembl
Innerchr22:33853022..33872857hg19UCSC Ensembl
Outerchr22:33848010..33878801hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3830792
hg1930792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040773
Samples
Known GenesLARGE
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)nsv1160751
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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