A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428464



Internal ID18278228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17721460hg38UCSC Ensembl
Innerchr5:17364700..17721569hg19UCSC Ensembl
Innerchr5:17417700..17757290hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38356870
hg19356870
hg18339591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450380, nssv450370, nssv450375, nssv450381, nssv450374, nssv450382, nssv450379, nssv450336, nssv450377, nssv450372, nssv450373, nssv450371
SamplesHGDP01087, HGDP01093, NA18916, NA19189, HGDP00460, HGDP00450, NA19181, NA19113, NA19225, HGDP01094, HGDP00984, HGDP00471
Known GenesLOC401177
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)nsv428464
Frequency
Sample Size62
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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