A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026830



Internal ID19290693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53136368..53220712hg38UCSC Ensembl
Outerchr2:53134593..53224440hg38UCSC Ensembl
Innerchr2:53363506..53447850hg19UCSC Ensembl
Outerchr2:53361731..53451578hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3889848
hg1989848
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160800
Supporting Variants
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)nssv4026830
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