A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160769



Internal ID19303294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501276..42554485hg38UCSC Ensembl
Outerchr22:42496590..42559425hg38UCSC Ensembl
Innerchr22:42897282..42950491hg19UCSC Ensembl
Outerchr22:42892596..42955431hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3862836
hg1962836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173n111
Supporting Variantsnssv4040879
Samples
Known GenesRRP7A, SERHL, SERHL2
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)nsv1160769
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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