A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511099



Internal ID15827121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145268274..145293459hg38UCSC Ensembl
Outerchr3:144986061..145011246hg19UCSC Ensembl
Outerchr3:146468751..146493936hg18UCSC Ensembl
Outerchr3:146468759..146493944hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3825186
hg1925186
hg1825186
hg1725186
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618642, nssv622362, nssv621563
SamplesCHM, NA15510, NA10860
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)nsv511099
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


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