A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161105



Internal ID18956628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12797714..12832654hg38UCSC Ensembl
Outerchr1:12792723..12850124hg38UCSC Ensembl
Innerchr1:12857863..12892508hg19UCSC Ensembl
Outerchr1:12852872..12909977hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3857402
hg1957106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029064
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
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)nsv1161105
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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