A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428375



Internal ID18278139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4987311..5144079hg38UCSC Ensembl
Innerchr20:4967957..5124725hg19UCSC Ensembl
Innerchr20:4915957..5072725hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38156769
hg19156769
hg18156769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453826
SamplesNA19113
Known GenesCDS2, PCNA, PCNA-AS1, SLC23A2, TMEM230
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)nsv428375
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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