A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479066



Internal ID15578492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174283638..174283638hg38UCSC Ensembl
chr4:175204789..175204789hg19UCSC Ensembl
chr4:175441364..175441364hg18UCSC Ensembl
chr4:175579519..175579519hg17UCSC Ensembl
Cytoband4q34.1
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 Variantsnssv3011898
Samples
Known GenesFBXO8
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)nsv479066
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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