A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031266



Internal ID18948443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20608460..20731152hg38UCSC Ensembl
Outerchr12:20604634..20741072hg38UCSC Ensembl
Innerchr12:20761394..20884086hg19UCSC Ensembl
Outerchr12:20757568..20894006hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38136439
hg19136439
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159988
Supporting Variants
Samples
Known GenesPDE3A, SLCO1C1
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)nssv4031266
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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