A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031269



Internal ID18948446
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159991
Supporting Variants
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)nssv4031269
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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