A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv475411



Internal ID15574845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62573259..62573259hg38UCSC Ensembl
chr20:61170466..61170466hg19UCSC Ensembl
chr20:60580911..60580911hg18UCSC Ensembl
chr20:60580911..60580911hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3012024
SamplesNA19240
Known Genes
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv475411
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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