A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160285



Internal ID18957653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34475681..34526116hg38UCSC Ensembl
Outerchr15:34473110..34538052hg38UCSC Ensembl
Innerchr15:34767882..34818317hg19UCSC Ensembl
Outerchr15:34765311..34830253hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3864943
hg1964943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032241
Samples
Known GenesGOLGA8B, MIR1233-1, MIR1233-2
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)nsv1160285
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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