A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509785



Internal ID15477283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63999103..64137376hg38UCSC Ensembl
Outerchr20:62630456..62768729hg19UCSC Ensembl
Outerchr20:62100900..62239173hg18UCSC Ensembl
Outerchr20:62100900..62239173hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3813994
hg1913994
hg1813994
hg1713994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619852
SamplesNA10860
Known GenesC20orf201, LINC00176, MIR6813, NPBWR2, OPRL1, PRPF6, RGS19, SOX18, TCEA2
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)nsv509785
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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