A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160385



Internal ID19302992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31954295..32113010hg38UCSC Ensembl
Outerchr16:31948830..32135565hg38UCSC Ensembl
Innerchr16:31965616..32124331hg19UCSC Ensembl
Outerchr16:31960151..32146886hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38186736
hg19186736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038720
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)nsv1160385
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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