A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv213n111



Internal ID20163942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179293967..179509604hg38UCSC Ensembl
chr5:178720968..178936605hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38215638
hg19215638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161319, nsv1161318
Samples
Known GenesADAMTS2
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)dgv213n111
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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