A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509422



Internal ID15476920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68734013..68794964hg38UCSC Ensembl
Outerchr11:68501481..68562432hg19UCSC Ensembl
Outerchr11:68258057..68319008hg18UCSC Ensembl
Outerchr11:68258057..68319008hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg383182
hg193182
hg183182
hg173182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623441
SamplesNA18994
Known GenesCPT1A, MTL5
MethodOptical mapping
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)nsv509422
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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