A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv503



Internal ID15549798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:115948979..115983280hg38UCSC Ensembl
Outerchr11:115819697..115853998hg19UCSC Ensembl
Outerchr11:115324907..115359208hg18UCSC Ensembl
Outerchr11:115324907..115359208hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv503
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