A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160582



Internal ID19302491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29419008..29421356hg38UCSC Ensembl
Outerchr2:29418334..29421729hg38UCSC Ensembl
Innerchr2:29641874..29644222hg19UCSC Ensembl
Outerchr2:29641200..29644595hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383396
hg193396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026411, nssv4026413
Samples
Known GenesALK
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)nsv1160582
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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