A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161234



Internal ID19302671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41231396..41241291hg38UCSC Ensembl
Outerchr5:41226663..41244575hg38UCSC Ensembl
Innerchr5:41231498..41241393hg19UCSC Ensembl
Outerchr5:41226765..41244677hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817913
hg1917913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033143, nssv4033144
Samples
Known GenesC6
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)nsv1161234
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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