A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428380



Internal ID18278144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62632018..62935383hg38UCSC Ensembl
Innerchr20:61263370..61566735hg19UCSC Ensembl
Innerchr20:60733815..61037180hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38303366
hg19303366
hg18303366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453855
SamplesNA19113
Known GenesCOL9A3, DIDO1, DPH3P1, LINC00659, LOC100127888, MRGBP, NTSR1, OGFR, OGFR-AS1, SLCO4A1, TCFL5
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)nsv428380
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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