A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453278



Internal ID18273381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89376499..89585740hg38UCSC Ensembl
Innerchr16:89442907..89652148hg19UCSC Ensembl
Innerchr16:87970408..88179649hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38209242
hg19209242
hg18209242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428331
Supporting Variants
SamplesHGDP00463
Known GenesANKRD11, CPNE7, RPL13, SNORD68, SPG7
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)nssv453278
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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