A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428419



Internal ID18624869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97497948..97703416hg38UCSC Ensembl
Innerchr3:97216792..97422260hg19UCSC Ensembl
Innerchr3:98699482..98904950hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38205469
hg19205469
hg18205469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454272
SamplesNA19113
Known GenesEPHA6
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)nsv428419
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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