A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511066



Internal ID15827088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:55488049..55561915hg38UCSC Ensembl
Outerchr20:54104587..54136973hg19UCSC Ensembl
Outerchr20:53537994..53570380hg18UCSC Ensembl
Outerchr20:53537994..53570380hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3873867
hg1932387
hg1832387
hg1732387
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621658, nssv618681, nssv624368
SamplesCHM, NA15510, NA18994
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)nsv511066
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


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