A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509459



Internal ID6097147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20985236..21031310hg19UCSC Ensembl
Outerchr12:20876503..20922577hg18UCSC Ensembl
Outerchr12:20876503..20922577hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg193485
hg183485
hg173485
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv623626
SamplesNA18994
Known GenesSLCO1B3
Method
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague et al 2010
Pubmed ID20534489
Accession Number(s)nsv509459
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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