A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031563



Internal ID19295426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128308072..128379998hg38UCSC Ensembl
Outerchr12:128304830..128381760hg38UCSC Ensembl
Innerchr12:128792617..128864543hg19UCSC Ensembl
Outerchr12:128789375..128866305hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3876931
hg1976931
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160071
Supporting Variants
Samples
Known GenesTMEM132C
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)nssv4031563
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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