A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161976



Internal ID18956600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76497303..76500827hg38UCSC Ensembl
Outerchr10:76493093..76501509hg38UCSC Ensembl
Innerchr10:78257061..78260585hg19UCSC Ensembl
Outerchr10:78252851..78261267hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg388417
hg198417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038289, nssv4038294, nssv4038295, nssv4038308, nssv4038342, nssv4038330, nssv4038309, nssv4038338, nssv4038307, nssv4038336, nssv4038343, nssv4038291, nssv4038305, nssv4038333, nssv4038306, nssv4038284, nssv4038325, nssv4038332, nssv4038296, nssv4038290, nssv4038298, nssv4038320, nssv4038318, nssv4038301, nssv4038283, nssv4038331, nssv4038341, nssv4038313, nssv4038340, nssv4038286, nssv4038319, nssv4038293, nssv4038287, nssv4038299, nssv4038303, nssv4038288, nssv4038312, nssv4038335, nssv4038324, nssv4038322, nssv4038337, nssv4038321, nssv4038323, nssv4038311, nssv4038316, nssv4038315, nssv4038292, nssv4038310, nssv4038302, nssv4038297, nssv4038314, nssv4038328, nssv4038327, nssv4038329, nssv4038285, nssv4038300, nssv4038304, nssv4038334, nssv4038339, nssv4038317, nssv4038326, nssv4038282, nssv4038344
Samples
Known GenesC10orf11
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)nsv1161976
Frequency
Sample Size369
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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