A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034088



Internal ID18951265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180718207..180912830hg38UCSC Ensembl
Outerchr5:180717688..180914895hg38UCSC Ensembl
Innerchr5:180145207..180339830hg19UCSC Ensembl
Outerchr5:180144688..180341895hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38197208
hg19197208
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161322
Supporting Variants
Samples
Known GenesBTNL8, HEIH, LINC00847, MGAT1, OR2Y1, ZFP62
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)nssv4034088
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer