A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428327



Internal ID11591759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46523056..46684578hg38UCSC Ensembl
Innerchr16:46556968..46718490hg19UCSC Ensembl
Innerchr16:45114469..45275991hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38161523
hg19161523
hg18161523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453243
SamplesHGDP00449
Known GenesANKRD26P1, SHCBP1, VPS35
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)nsv428327
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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