A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026530



Internal ID19290393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40537027..40541762hg38UCSC Ensembl
Outerchr2:40536875..40551185hg38UCSC Ensembl
Innerchr2:40764167..40768902hg19UCSC Ensembl
Outerchr2:40764015..40778325hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3814311
hg1914311
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160743
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)nssv4026530
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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