A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13n111



Internal ID20163742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103621165..103801365hg38UCSC Ensembl
chr1:104163787..104343987hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38180201
hg19180201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161045, nsv1161044, nsv1161039, nsv1161043
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)dgv13n111
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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