A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv478650



Internal ID15231390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60761884..60761884hg38UCSC Ensembl
chr11:60529357..60529357hg19UCSC Ensembl
chr11:60285933..60285933hg18UCSC Ensembl
chr11:60285933..60285933hg17UCSC Ensembl
Cytoband11q12.2
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 Variantsnssv3010927
SamplesNA18507
Known GenesMS4A15
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)nsv478650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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