A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7n111



Internal ID20163736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12779433..12953291hg38UCSC Ensembl
chr1:12839576..13013117hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38173859
hg19173542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161135, nsv1161124, nsv1160996
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, 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)dgv7n111
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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