A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv31n111



Internal ID22798231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47030900..47136996hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19106097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161944, nsv1161946
Samples
Known GenesHNRNPA1P33, LINC00842, LOC100996758, NPY4R
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)dgv31n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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