A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428330



Internal ID18278094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87336922..87633082hg38UCSC Ensembl
Innerchr16:87370528..87666688hg19UCSC Ensembl
Innerchr16:85928029..86224189hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38296161
hg19296161
hg18296161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453272, nssv453273
SamplesHGDP00984, HGDP00472
Known GenesFBXO31, JPH3, MAP1LC3B, ZCCHC14
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)nsv428330
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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