A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161085



Internal ID19304077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54149930..54181375hg38UCSC Ensembl
Outerchr4:54145602..54183584hg38UCSC Ensembl
Innerchr4:55016097..55047542hg19UCSC Ensembl
Outerchr4:55011769..55049751hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3837983
hg1937983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028896
Samples
Known Genes
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)nsv1161085
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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