A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160469



Internal ID18957934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109735..36157718hg38UCSC Ensembl
Outerchr17:36109315..36200725hg38UCSC Ensembl
Innerchr17:34437128..34485091hg19UCSC Ensembl
Outerchr17:34436708..34528125hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3891411
hg1991418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039204
Samples
Known GenesCCL3L1, CCL3L3, TBC1D3B
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)nsv1160469
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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