A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032239



Internal ID18949416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34430431..34570522hg38UCSC Ensembl
Outerchr15:34427734..34576695hg38UCSC Ensembl
Innerchr15:34722632..34862723hg19UCSC Ensembl
Outerchr15:34719935..34868896hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38148962
hg19148962
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160283
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)nssv4032239
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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