A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1161354

Internal ID18956947
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869415..29953350hg38UCSC Ensembl
Outerchr6:29869295..29958684hg38UCSC Ensembl
Innerchr6:29837192..29921127hg19UCSC Ensembl
Outerchr6:29837072..29926461hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034306, nssv4034370, nssv4034338, nssv4034341, nssv4034365, nssv4034346, nssv4034285, nssv4034317, nssv4034290, nssv4034361, nssv4034275, nssv4034366, nssv4034315, nssv4034312, nssv4034302, nssv4034372, nssv4034308, nssv4034359, nssv4034291, nssv4034358, nssv4034289, nssv4034355, nssv4034369, nssv4034296, nssv4034351, nssv4034299, nssv4034340, nssv4034276, nssv4034371, nssv4034335, nssv4034333, nssv4034278, nssv4034363, nssv4034357, nssv4034323, nssv4034342, nssv4034337, nssv4034343, nssv4034305, nssv4034368, nssv4034347, nssv4034364, nssv4034321, nssv4034319, nssv4034353, nssv4034300, nssv4034288, nssv4034280, nssv4034284, nssv4034374, nssv4034281, nssv4034279, nssv4034274, nssv4034303, nssv4034310, nssv4034329, nssv4034307, nssv4034320, nssv4034313, nssv4034328, nssv4034350, nssv4034298, nssv4034287, nssv4034325, nssv4034327, nssv4034345, nssv4034330, nssv4034301, nssv4034354, nssv4034292, nssv4034367, nssv4034316, nssv4034293, nssv4034334, nssv4034282, nssv4034304, nssv4034362, nssv4034352, nssv4034326, nssv4034311, nssv4034297, nssv4034373, nssv4034349, nssv4034314, nssv4034360, nssv4034332, nssv4034324, nssv4034295, nssv4034339, nssv4034277, nssv4034322, nssv4034336, nssv4034348, nssv4034294, nssv4034286, nssv4034283, nssv4034344, nssv4034318, nssv4034309, nssv4034331, nssv4034356
Known GenesHCG4B, HLA-A, HLA-H
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
Pubmed ID26073780
Accession Number(s)nsv1161354
Sample Size369
Observed Gain0
Observed Loss101
Observed Complex0

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