A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031804



Internal ID19295667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20071204..20127856hg38UCSC Ensembl
Outerchr14:20070949..20131356hg38UCSC Ensembl
Innerchr14:20539363..20596015hg19UCSC Ensembl
Outerchr14:20539108..20599515hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860408
hg1960408
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160165
Supporting Variants
Samples
Known GenesOR4K17
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)nssv4031804
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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