A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161768



Internal ID19303308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67635897..67637971hg38UCSC Ensembl
Outerchr8:67635434..67644593hg38UCSC Ensembl
Innerchr8:68548132..68550206hg19UCSC Ensembl
Outerchr8:68547669..68556828hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg389160
hg199160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036980
Samples
Known GenesCPA6
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)nsv1161768
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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