A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621029



Internal ID15820379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67077793..67114328hg38UCSC Ensembl
Outerchr16:67111696..67148231hg19UCSC Ensembl
Outerchr16:65669197..65705732hg18UCSC Ensembl
Outerchr16:65669197..65705732hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383362
hg193362
hg183362
hg173362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509627
Supporting Variants
SamplesNA15510
Known GenesC16orf70, CBFB
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)nssv621029
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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