A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040581



Internal ID18952717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19334898..19361403hg38UCSC Ensembl
Outerchr22:19329577..19364667hg38UCSC Ensembl
Innerchr22:19322421..19348926hg19UCSC Ensembl
Outerchr22:19317100..19352190hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3835091
hg1935091
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160727
Supporting Variants
Samples
Known GenesHIRA
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)nssv4040581
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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