A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6n111



Internal ID20163735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12771339..12923686hg38UCSC Ensembl
chr1:12831481..12983506hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38152348
hg19152026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161103, nsv1160957, nsv1160980
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
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)dgv6n111
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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