A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv105n111



Internal ID20163834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30322761..30455191hg38UCSC Ensembl
chr15:30614964..30747394hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38132431
hg19132431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160268, nsv1160269, nsv1160267
Samples
Known GenesCHRFAM7A, LOC101059918
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)dgv105n111
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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