A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479211



Internal ID15231951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88723573..88723573hg38UCSC Ensembl
chr14:89189917..89189917hg19UCSC Ensembl
chr14:88259670..88259670hg18UCSC Ensembl
chr14:88259670..88259670hg17UCSC Ensembl
Cytoband14q31.3
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 Variantsnssv3015937
Samples
Known GenesEML5
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)nsv479211
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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