A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031881



Internal ID18949058
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160201
Supporting Variants
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)nssv4031881
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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