A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621126



Internal ID15820476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47808772..47862515hg38UCSC Ensembl
Outerchr20:46437516..46491259hg19UCSC Ensembl
Outerchr20:45870923..45924666hg18UCSC Ensembl
Outerchr20:45870923..45924666hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg388695
hg198695
hg188695
hg178695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509773
Supporting Variants
SamplesNA15510
Known Genes
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)nssv621126
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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