A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509592



Internal ID6096177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3262841..3325834hg19UCSC Ensembl
Outerchr16:3202842..3265835hg18UCSC Ensembl
Outerchr16:3202842..3265835hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg193532
hg183532
hg173532
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619679
SamplesNA10860
Known GenesFLJ39639, MEFV, OR1F2P, ZNF200
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)nsv509592
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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