A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428396



Internal ID18278160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64025871..64312422hg38UCSC Ensembl
Innerchr2:64253005..64539556hg19UCSC Ensembl
Innerchr2:64106509..64393060hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38286552
hg19286552
hg18286552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453786
SamplesNA18498
Known GenesLINC00309, PELI1
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)nsv428396
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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