A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477650



Internal ID15230390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57648792..57648792hg38UCSC Ensembl
chr11:57416265..57416265hg19UCSC Ensembl
chr11:57172841..57172841hg18UCSC Ensembl
chr11:57172841..57172841hg17UCSC Ensembl
Cytoband11q12.1
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 Variantsnssv3012989
SamplesNA18517
Known GenesYPEL4
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)nsv477650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer