A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031575



Internal ID19295438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129618669..129635809hg38UCSC Ensembl
Outerchr12:129617225..129639879hg38UCSC Ensembl
Innerchr12:130103214..130120354hg19UCSC Ensembl
Outerchr12:130101770..130124424hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3822655
hg1922655
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160077
Supporting Variants
Samples
Known GenesTMEM132D
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)nssv4031575
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer