A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161354



Internal ID18956947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869415..29953350hg38UCSC Ensembl
Outerchr6:29869295..29958684hg38UCSC Ensembl
Innerchr6:29837192..29921127hg19UCSC Ensembl
Outerchr6:29837072..29926461hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3889390
hg1989390
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
Samples
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
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161354
Frequency
Sample Size369
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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