A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031814



Internal ID19295677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29158612..29203578hg38UCSC Ensembl
Outerchr14:29150674..29208669hg38UCSC Ensembl
Innerchr14:29627818..29672784hg19UCSC Ensembl
Outerchr14:29619880..29677875hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3857996
hg1957996
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160174
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)nssv4031814
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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