A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160965



Internal ID19303680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98363896..98395918hg38UCSC Ensembl
Outerchr3:98362345..98401636hg38UCSC Ensembl
Innerchr3:98082740..98114762hg19UCSC Ensembl
Outerchr3:98081189..98120480hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3839292
hg1939292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027983
Samples
Known GenesOR5K3
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)nsv1160965
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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