A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161777



Internal ID19302556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79217299..79290689hg38UCSC Ensembl
Outerchr8:79214784..79291816hg38UCSC Ensembl
Innerchr8:80129534..80202924hg19UCSC Ensembl
Outerchr8:80127019..80204051hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3877033
hg1977033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037015
Samples
Known Genes
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)nsv1161777
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