A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618681



Internal ID15816487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:55488049..55553139hg38UCSC Ensembl
Outerchr20:54104587..54128197hg19UCSC Ensembl
Outerchr20:53537994..53561604hg18UCSC Ensembl
Outerchr20:53537994..53561604hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3865091
hg1923611
hg1823611
hg1723611
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511066
Supporting Variants
SamplesCHM
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)nssv618681
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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