A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453834



Internal ID18272978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30184894..30419232hg38UCSC Ensembl
Innerchr20:29419570..29653908hg19UCSC Ensembl
Innerchr20:28033231..28267569hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg38234339
hg19234339
hg18234339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428376
Supporting Variants
SamplesHGDP00449
Known GenesFRG1B, MLLT10P1
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)nssv453834
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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