A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv110n111



Internal ID22798310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2629667..2699084hg38UCSC Ensembl
chr16:2679668..2749085hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3869418
hg1969418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160331, nsv1160330
Samples
Known GenesERVK13-1, FLJ42627, KCTD5, LOC652276
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)dgv110n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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