A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172n111



Internal ID20163901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38947911..39007789hg38UCSC Ensembl
chr22:39343916..39403794hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3859879
hg1959879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160759, nsv1160758, nsv1160760, nsv1160761
Samples
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)dgv172n111
Frequency
Sample Size369
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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