A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160520



Internal ID19303493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43432069..43437045hg38UCSC Ensembl
Outerchr18:43427734..43439639hg38UCSC Ensembl
Innerchr18:41012034..41017010hg19UCSC Ensembl
Outerchr18:41007699..41019604hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3811906
hg1911906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032519
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)nsv1160520
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