A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160877



Internal ID19303566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158854184..158873584hg38UCSC Ensembl
Outerchr2:158849097..158874941hg38UCSC Ensembl
Innerchr2:159710696..159730096hg19UCSC Ensembl
Outerchr2:159705609..159731453hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3825845
hg1925845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027474, nssv4027475
Samples
Known Genes
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)nsv1160877
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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