A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2274



Internal ID5084776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42455697..42489868hg19UCSC Ensembl
Outerchr18:40709695..40743866hg18UCSC Ensembl
Outerchr18:40709695..40743866hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg195266
hg185266
hg175266
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7389
SamplesNA12156
Known GenesSETBP1
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)nsv2274
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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