A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n111



Internal ID20163730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:690090..939522hg38UCSC Ensembl
chr1:625470..874902hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38249433
hg19249433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161363, nsv1161123
Samples
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100130417, LOC100133331, LOC100288069, SAMD11
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)dgv1n111
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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