A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428291



Internal ID18278055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112722543..113036887hg38UCSC Ensembl
Innerchr13:113376857..113691201hg19UCSC Ensembl
Innerchr13:112424858..112739202hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38314345
hg19314345
hg18314345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452405
SamplesNA19113
Known GenesATP11A, MCF2L, MCF2L-AS1
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)nsv428291
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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