A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2n111



Internal ID22798202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:777165..877938hg38UCSC Ensembl
chr1:712545..813318hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38100774
hg19100774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161364, nsv1161682
Samples
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100288069
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)dgv2n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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