A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039836



Internal ID18955289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42218319..42339218hg38UCSC Ensembl
Outerchr19:42209979..42341899hg38UCSC Ensembl
Innerchr19:42722471..42843370hg19UCSC Ensembl
Outerchr19:42714131..42846051hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38131921
hg19131921
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160627
Supporting Variants
Samples
Known GenesCIC, DEDD2, ERF, GSK3A, MEGF8, PAFAH1B3, PRR19, TMEM145, ZNF526
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)nssv4039836
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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