A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428413



Internal ID18278177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:15083610..15308007hg38UCSC Ensembl
Innerchr3:15125117..15349514hg19UCSC Ensembl
Innerchr3:15100121..15324518hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38224398
hg19224398
hg18224398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454214
SamplesNA19113
Known GenesCAPN7, COL6A4P1, SH3BP5, SH3BP5-AS1, ZFYVE20
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)nsv428413
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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