A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428295



Internal ID18278059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73493593..73660367hg38UCSC Ensembl
Innerchr14:73960297..74127070hg19UCSC Ensembl
Innerchr14:73030050..73196823hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38166775
hg19166774
hg18166774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452494, nssv452489, nssv452491, nssv452492, nssv452488, nssv452485, nssv452486, nssv452490, nssv452493, nssv452495
SamplesHGDP01087, HGDP01088, NA18916, NA19189, HGDP00450, HGDP00986, NA19113, NA19257, NA19108, NA19096
Known GenesACOT1, ACOT2, ACOT4, ACOT6, DNAL1, HEATR4
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)nsv428295
Frequency
Sample Size62
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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