A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv180n111



Internal ID22798380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130042281..130100759hg38UCSC Ensembl
chr3:129761124..129819602hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3858479
hg1958479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160979, nsv1160978
Samples
Known GenesALG1L2, FAM86HP
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)dgv180n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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