A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160830



Internal ID18955729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102348872..102352042hg38UCSC Ensembl
Outerchr2:102344124..102357571hg38UCSC Ensembl
Innerchr2:102965332..102968502hg19UCSC Ensembl
Outerchr2:102960584..102974031hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3813448
hg1913448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027039
Samples
Known GenesIL18R1, IL1RL1
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)nsv1160830
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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