A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161316



Internal ID19303040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178682974..178686162hg38UCSC Ensembl
Outerchr5:178680821..178691854hg38UCSC Ensembl
Innerchr5:178109975..178113163hg19UCSC Ensembl
Outerchr5:178107822..178118855hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811034
hg1911034
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034039, nssv4034060, nssv4034038, nssv4034043, nssv4034041, nssv4034064, nssv4034059, nssv4034078, nssv4034044, nssv4034072, nssv4034050, nssv4034058, nssv4034055, nssv4034073, nssv4034046, nssv4034035, nssv4034065, nssv4034045, nssv4034075, nssv4034068, nssv4034048, nssv4034061, nssv4034077, nssv4034054, nssv4034066, nssv4034053, nssv4034042, nssv4034052, nssv4034074, nssv4034081, nssv4034067, nssv4034036, nssv4034062, nssv4034071, nssv4034076, nssv4034069, nssv4034070, nssv4034056, nssv4034040, nssv4034057, nssv4034034, nssv4034047, nssv4034051, nssv4034079, nssv4034049, nssv4034063, nssv4034080, nssv4034037
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)nsv1161316
Frequency
Sample Size369
Observed Gain1
Observed Loss47
Observed Complex0
Frequencyn/a


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