A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027367



Internal ID19291230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:145335551..145375904hg38UCSC Ensembl
Outerchr2:145334839..145376672hg38UCSC Ensembl
Innerchr2:146093119..146133472hg19UCSC Ensembl
Outerchr2:146092407..146134240hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3841834
hg1941834
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160873
Supporting Variants
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)nssv4027367
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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