A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428378



Internal ID18278142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61886206..62008187hg38UCSC Ensembl
Innerchr20:60461262..60583243hg19UCSC Ensembl
Innerchr20:59894657..60016638hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38121982
hg19121982
hg18121982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453851, nssv453852
SamplesNA19225, NA19147
Known GenesCDH4, MIR1257, TAF4
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)nsv428378
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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