A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160781



Internal ID19302554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47692435..47938521hg38UCSC Ensembl
Outerchr22:47691074..47943120hg38UCSC Ensembl
Innerchr22:48088184..48334270hg19UCSC Ensembl
Outerchr22:48086823..48338869hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38252047
hg19252047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040906
Samples
Known Genes
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)nsv1160781
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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