A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160201



Internal ID18956825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92637667..92712122hg38UCSC Ensembl
Outerchr14:92634527..92716121hg38UCSC Ensembl
Innerchr14:93104012..93178467hg19UCSC Ensembl
Outerchr14:93100872..93182466hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3881595
hg1981595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031881
Samples
Known GenesLGMN, RIN3
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)nsv1160201
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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