A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7694



Internal ID5088358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17564432..17586504hg19UCSC Ensembl
Outerchr11:17521008..17543080hg18UCSC Ensembl
Outerchr11:17521008..17543080hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg194960
hg184960
hg174960
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv3930
SamplesNA12878
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)nsv7694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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