A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450193



Internal ID18273794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167813440..168130542hg38UCSC Ensembl
Innerchr4:168734591..169051693hg19UCSC Ensembl
Innerchr4:168971166..169288268hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38317103
hg19317103
hg18317103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428455
Supporting Variants
SamplesHGDP00478
Known GenesANXA10
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)nssv450193
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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