A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160918



Internal ID18957415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4210595..4237773hg38UCSC Ensembl
Outerchr3:4198163..4244197hg38UCSC Ensembl
Innerchr3:4252279..4279457hg19UCSC Ensembl
Outerchr3:4239847..4285881hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3846035
hg1946035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027648
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)nsv1160918
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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