A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032263



Internal ID18949440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40343303..40362207hg38UCSC Ensembl
Outerchr15:40338635..40365794hg38UCSC Ensembl
Innerchr15:40635504..40654408hg19UCSC Ensembl
Outerchr15:40630836..40657995hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3827160
hg1927160
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160287
Supporting Variants
Samples
Known GenesC15orf52, DISP2, PHGR1
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)nssv4032263
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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