A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160593



Internal ID18956685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19629492..19677002hg38UCSC Ensembl
Outerchr19:19623730..19685614hg38UCSC Ensembl
Innerchr19:19740301..19787811hg19UCSC Ensembl
Outerchr19:19734539..19796423hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3861885
hg1961885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039725
Samples
Known GenesATP13A1, GMIP, LPAR2, ZNF101
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)nsv1160593
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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