A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038966



Internal ID19301105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117657..70164453hg38UCSC Ensembl
Outerchr16:70117624..70164493hg38UCSC Ensembl
Innerchr16:70151560..70198356hg19UCSC Ensembl
Outerchr16:70151527..70198396hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3846870
hg1946870
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160430
Supporting Variants
Samples
Known GenesPDPR
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)nssv4038966
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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