A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv199n111



Internal ID20163928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127778281..127796436hg38UCSC Ensembl
chr4:128699436..128717591hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3818156
hg1918156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161149, nsv1161148
Samples
Known GenesHSPA4L
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)dgv199n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer