A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160879



Internal ID19303491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163742792..163790132hg38UCSC Ensembl
Outerchr2:163735836..163792152hg38UCSC Ensembl
Innerchr2:164599302..164646642hg19UCSC Ensembl
Outerchr2:164592346..164648662hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3856317
hg1956317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027477
Samples
Known GenesFIGN
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)nsv1160879
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