A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031480



Internal ID19295343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71092221..71128617hg38UCSC Ensembl
Outerchr12:71090144..71133389hg38UCSC Ensembl
Innerchr12:71486001..71522397hg19UCSC Ensembl
Outerchr12:71483924..71527169hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3843246
hg1943246
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160043
Supporting Variants
Samples
Known GenesTSPAN8
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)nssv4031480
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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