A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428146



Internal ID11591578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99894099..100032786hg38UCSC Ensembl
Innerchr1:100359655..100498342hg19UCSC Ensembl
Innerchr1:100132243..100270930hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38138688
hg19138688
hg18138688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450620
SamplesNA19113
Known GenesAGL, SLC35A3
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)nsv428146
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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