A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509762



Internal ID15825788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13930516..13964190hg38UCSC Ensembl
Outerchr20:13911162..13944836hg19UCSC Ensembl
Outerchr20:13859162..13892836hg18UCSC Ensembl
Outerchr20:13859162..13892836hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386771
hg196771
hg186771
hg176771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619842, nssv623822, nssv618135, nssv621122
SamplesCHM, NA15510, NA18994, NA10860
Known GenesSEL1L2
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)nsv509762
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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