A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509



Internal ID15203178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117680390..117713104hg38UCSC Ensembl
Outerchr11:117551105..117583819hg19UCSC Ensembl
Outerchr11:117056315..117089029hg18UCSC Ensembl
Outerchr11:117056315..117089029hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386568
hg196568
hg186568
hg176568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5382
SamplesNA19129
Known GenesDSCAML1
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)nsv509
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