A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161260



Internal ID18956473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109676386..109702376hg38UCSC Ensembl
Outerchr1:109664699..109703504hg38UCSC Ensembl
Innerchr1:110219008..110244998hg19UCSC Ensembl
Outerchr1:110207321..110246126hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3838806
hg1938806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15n111
Supporting Variantsnssv4029686
Samples
Known GenesGSTM1, GSTM2, GSTM4
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)nsv1161260
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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