A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031836



Internal ID19295699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43121666..43140736hg38UCSC Ensembl
Outerchr14:43118433..43142553hg38UCSC Ensembl
Innerchr14:43590869..43609939hg19UCSC Ensembl
Outerchr14:43587636..43611756hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3824121
hg1924121
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160183
Supporting Variants
Samples
Known Genes
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)nssv4031836
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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