A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428119



Internal ID18624569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100279705..100510551hg38UCSC Ensembl
Innerchr5:99615409..99846255hg19UCSC Ensembl
Innerchr5:99643308..99874154hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38230847
hg19230847
hg18230847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450477, nssv450479, nssv450480, nssv450478
SamplesHGDP00463, NA19189, HGDP00467, HGDP00449
Known GenesLOC100133050
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)nsv428119
Frequency
Sample Size62
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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