A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7693



Internal ID5091047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17556788..17601771hg19UCSC Ensembl
Outerchr11:17513364..17558347hg18UCSC Ensembl
Outerchr11:17513364..17558347hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg195550
hg185550
hg175550
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8887
SamplesNA12156
Known GenesUSH1C
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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