A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031267



Internal ID18948444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20758687..21040857hg38UCSC Ensembl
Outerchr12:20754177..21044489hg38UCSC Ensembl
Innerchr12:20911621..21193791hg19UCSC Ensembl
Outerchr12:20907111..21197423hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38290313
hg19290313
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159989
Supporting Variants
Samples
Known GenesSLCO1B3, SLCO1B7
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)nssv4031267
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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