A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160424



Internal ID19304558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60048702..60063082hg38UCSC Ensembl
Outerchr16:60042592..60071814hg38UCSC Ensembl
Innerchr16:60082606..60096986hg19UCSC Ensembl
Outerchr16:60076496..60105718hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3829223
hg1929223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038952
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)nsv1160424
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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