A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509149



Internal ID6097240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111485409..111502464hg19UCSC Ensembl
Outerchr6:111592102..111609157hg18UCSC Ensembl
Outerchr6:111592102..111609157hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg194067
hg184067
hg174067
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618055
SamplesCHM
Known GenesSLC16A10
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)nsv509149
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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