A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524



Internal ID5090960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120963503..121008167hg19UCSC Ensembl
Outerchr11:120468713..120513377hg18UCSC Ensembl
Outerchr11:120468713..120513377hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg195242
hg185242
hg175242
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8970
SamplesNA12156
Known GenesTECTA
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)nsv524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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