A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428179



Internal ID18277943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108076252..108554056hg38UCSC Ensembl
Innerchr1:108618874..109096678hg19UCSC Ensembl
Innerchr1:108420397..108898201hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38477805
hg19477805
hg18477805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450864, nssv450875, nssv450886
SamplesHGDP01088, NA18498, NA19108
Known GenesNBPF4, NBPF6, SLC25A24
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)nsv428179
Frequency
Sample Size62
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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