A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030942



Internal ID19294805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7799180..7851828hg38UCSC Ensembl
Outerchr12:7792788..7853910hg38UCSC Ensembl
Innerchr12:7951776..8004424hg19UCSC Ensembl
Outerchr12:7945384..8006506hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3861123
hg1961123
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159953
Supporting Variants
Samples
Known GenesNANOG, SLC2A14
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)nssv4030942
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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