A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2272



Internal ID5086486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42258481..42303303hg19UCSC Ensembl
Outerchr18:40512479..40557301hg18UCSC Ensembl
Outerchr18:40512479..40557301hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg195401
hg185401
hg175401
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7388
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)nsv2272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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