A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454340



Internal ID18274790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197128182..197316896hg38UCSC Ensembl
Innerchr3:196855053..197043767hg19UCSC Ensembl
Innerchr3:198339450..198528164hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38188715
hg19188715
hg18188715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428431
Supporting Variants
SamplesNA19108
Known GenesDLG1, DLG1-AS1, MIR4797
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)nssv454340
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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