A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160164



Internal ID19303021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20071204..20120285hg38UCSC Ensembl
Outerchr14:20070949..20123746hg38UCSC Ensembl
Innerchr14:20539363..20588444hg19UCSC Ensembl
Outerchr14:20539108..20591905hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3852798
hg1952798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88n111
Supporting Variantsnssv4031803
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)nsv1160164
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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