A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038570



Internal ID18954023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:17147271..17151886hg38UCSC Ensembl
Outerchr16:17144155..17154011hg38UCSC Ensembl
Innerchr16:17241128..17245743hg19UCSC Ensembl
Outerchr16:17238012..17247868hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg389857
hg199857
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160364
Supporting Variants
Samples
Known GenesXYLT1
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)nssv4038570
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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