A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032238



Internal ID18949415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34427594..34565809hg38UCSC Ensembl
Outerchr15:34421922..34570058hg38UCSC Ensembl
Innerchr15:34719795..34858010hg19UCSC Ensembl
Outerchr15:34714123..34862259hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38148137
hg19148137
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160282
Supporting Variants
Samples
Known GenesGOLGA8A, GOLGA8B, 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)nssv4032238
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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