A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428233



Internal ID18277997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69681990..70004998hg38UCSC Ensembl
Innerchr10:71441746..71764754hg19UCSC Ensembl
Innerchr10:71111752..71434760hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38323009
hg19323009
hg18323009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451922
SamplesHGDP00476
Known GenesCOL13A1
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)nsv428233
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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