A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160693



Internal ID19304104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10568903..10775586hg38UCSC Ensembl
Outerchr21:10559033..10775586hg38UCSC Ensembl
Innerchr21:10736871..10943554hg19UCSC Ensembl
Outerchr21:10736871..10953424hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38216554
hg19216554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040342, nssv4040317, nssv4040348, nssv4040320, nssv4040310, nssv4040329, nssv4040351, nssv4040311, nssv4040322, nssv4040319, nssv4040337, nssv4040325, nssv4040335, nssv4040330, nssv4040350, nssv4040341, nssv4040316, nssv4040336, nssv4040333, nssv4040352, nssv4040346, nssv4040340, nssv4040331, nssv4040345, nssv4040349, nssv4040314, nssv4040312, nssv4040327, nssv4040321, nssv4040326, nssv4040339, nssv4040343, nssv4040332, nssv4040315, nssv4040313, nssv4040334, nssv4040318, nssv4040323, nssv4040324, nssv4040347, nssv4040338, nssv4040344, nssv4040328
Samples
Known GenesTPTE
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)nsv1160693
Frequency
Sample Size369
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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