A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039723



Internal ID18955176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18113140..18139018hg38UCSC Ensembl
Outerchr19:18100050..18146108hg38UCSC Ensembl
Innerchr19:18223950..18249828hg19UCSC Ensembl
Outerchr19:18210860..18256918hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3846059
hg1946059
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160591
Supporting Variants
Samples
Known GenesMAST3
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)nssv4039723
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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