A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160685



Internal ID18956464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58434110..58440049hg38UCSC Ensembl
Outerchr20:58430347..58440722hg38UCSC Ensembl
Innerchr20:57009166..57015105hg19UCSC Ensembl
Outerchr20:57005403..57015778hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3810376
hg1910376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040301
Samples
Known GenesVAPB
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)nsv1160685
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