A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031884



Internal ID18949061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105302965..105468704hg38UCSC Ensembl
Outerchr14:105291411..105483783hg38UCSC Ensembl
Innerchr14:105769302..105935041hg19UCSC Ensembl
Outerchr14:105757748..105950120hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38192373
hg19192373
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160204
Supporting Variants
Samples
Known GenesBRF1, CRIP2, MTA1, PACS2, TEX22
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)nssv4031884
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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