A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452405



Internal ID18274920
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 StatusS
Merged Variantsnsv428291
Supporting Variants
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)nssv452405
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer