A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038829



Internal ID19300968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33086101..33690653hg38UCSC Ensembl
Outerchr16:33045427..33694195hg38UCSC Ensembl
Innerchr16:33097422..33493120hg19UCSC Ensembl
Outerchr16:33056748..33496662hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38648769
hg19439915
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160405
Supporting Variants
Samples
Known GenesLOC390705, RNU6-76P, TP53TG3, TP53TG3B, TP53TG3C
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)nssv4038829
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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