A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160277



Internal ID18956110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32257501..32567657hg38UCSC Ensembl
Outerchr15:32254157..32584630hg38UCSC Ensembl
Innerchr15:32549702..32859858hg19UCSC Ensembl
Outerchr15:32546358..32876831hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38330474
hg19330474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032225
Samples
Known GenesGOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)nsv1160277
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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