A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv478403



Internal ID15231143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88297341..88297341hg38UCSC Ensembl
chr11:88030509..88030509hg19UCSC Ensembl
chr11:87670157..87670157hg18UCSC Ensembl
chr11:87670157..87670157hg17UCSC Ensembl
Cytoband11q14.2
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 Variantsnssv3017580
SamplesNA18507
Known GenesCTSC
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)nsv478403
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