A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428274



Internal ID18624724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19163199..19372473hg38UCSC Ensembl
Innerchr12:19316133..19525407hg19UCSC Ensembl
Innerchr12:19207400..19416674hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38209275
hg19209275
hg18209275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452273
SamplesHGDP01094
Known GenesPLEKHA5
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)nsv428274
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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