A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473462



Internal ID15226210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111474278..111474278hg38UCSC Ensembl
chr9:114236558..114236558hg19UCSC Ensembl
chr9:113276379..113276379hg18UCSC Ensembl
chr9:111316113..111316113hg17UCSC Ensembl
Cytoband9q31.3
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 Variantsnssv3011065
SamplesNA19129
Known GenesKIAA0368
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)nsv473462
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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