A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160528



Internal ID19304372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63257193..63259427hg38UCSC Ensembl
Outerchr18:63255618..63263316hg38UCSC Ensembl
Innerchr18:60924426..60926660hg19UCSC Ensembl
Outerchr18:60922851..60930549hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg387699
hg197699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032527
Samples
Known GenesBCL2
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)nsv1160528
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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