A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029097



Internal ID18946274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68620261hg38UCSC Ensembl
Outerchr4:68478894..68623617hg38UCSC Ensembl
Innerchr4:69360488..69485979hg19UCSC Ensembl
Outerchr4:69344612..69489335hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38144724
hg19144724
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161106
Supporting Variants
Samples
Known GenesTMPRSS11E, UGT2B17
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)nssv4029097
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