A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511000



Internal ID15827022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:24322597..24391615hg38UCSC Ensembl
Outerchr11:24344143..24413161hg19UCSC Ensembl
Outerchr11:24300719..24369737hg18UCSC Ensembl
Outerchr11:24300719..24369737hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3869019
hg1969019
hg1869019
hg1769019
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621662
SamplesNA15510
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)nsv511000
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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