A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160331



Internal ID19302881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2655940..2697856hg38UCSC Ensembl
Outerchr16:2629667..2699084hg38UCSC Ensembl
Innerchr16:2705941..2747857hg19UCSC Ensembl
Outerchr16:2679668..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 Variantsdgv110n111
Supporting Variantsnssv4038476
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)nsv1160331
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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