A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160218



Internal ID19303255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056983..20996207hg38UCSC Ensembl
Outerchr15:20041902..21005443hg38UCSC Ensembl
Innerchr15:20262236..21201536hg19UCSC Ensembl
Outerchr15:20247155..21210772hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38963542
hg19963618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031905
Samples
Known GenesCHEK2P2, CT60, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1, NF1P2, POTEB, POTEB2
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)nsv1160218
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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