A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453590



Internal ID18274992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46580218..46826322hg38UCSC Ensembl
Innerchr18:44160181..44406285hg19UCSC Ensembl
Innerchr18:42414179..42660283hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38246105
hg19246105
hg18246105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428355
Supporting Variants
SamplesNA19147
Known GenesLOXHD1, PIAS2, ST8SIA5
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)nssv453590
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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