A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv636



Internal ID5090869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21042139..21074656hg19UCSC Ensembl
Outerchr12:20933406..20965923hg18UCSC Ensembl
Outerchr12:20933406..20965923hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg196986
hg186986
hg176986
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv10855
SamplesNA18956
Known GenesSLCO1B3
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)nsv636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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