A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160430



Internal ID19302639
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038959, nssv4038965, nssv4038961, nssv4038964, nssv4038958, nssv4038966, nssv4038960, nssv4038963, nssv4038962
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)nsv1160430
Frequency
Sample Size369
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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