A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159991



Internal ID18957137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27941988..27957416hg38UCSC Ensembl
Outerchr12:27941830..27966663hg38UCSC Ensembl
Innerchr12:28094921..28110349hg19UCSC Ensembl
Outerchr12:28094763..28119596hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3824834
hg1924834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031269
Samples
Known GenesPTHLH
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)nsv1159991
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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