A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160987



Internal ID19303592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:148106430..148142607hg38UCSC Ensembl
Outerchr3:148106114..148144917hg38UCSC Ensembl
Innerchr3:147824217..147860394hg19UCSC Ensembl
Outerchr3:147823901..147862704hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3838804
hg1938804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028149
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)nsv1160987
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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