A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428130



Internal ID18624580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161117736..161267212hg38UCSC Ensembl
Innerchr5:160544743..160694219hg19UCSC Ensembl
Innerchr5:160477321..160626797hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38149477
hg19149477
hg18149477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450532, nssv450529, nssv450530, nssv450528, nssv450527
SamplesHGDP00463, NA18916, NA18498, NA19108, HGDP00449
Known Genes
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428130
Frequency
Sample Size62
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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