A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv241n111



Internal ID22798441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:64409987..64534471hg38UCSC Ensembl
chr7:63870365..63994849hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38124485
hg19124485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161547, nsv1161545, nsv1161546
Samples
Known GenesYWHAEP1, ZNF680
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)dgv241n111
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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