A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv235n111



Internal ID22798435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29624952..29744097hg38UCSC Ensembl
chr7:29664568..29783713hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38119146
hg19119146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161514, nsv1161510
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)dgv235n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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