A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511109



Internal ID15827131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:84643293..84660087hg38UCSC Ensembl
Outerchr5:83939111..83955905hg19UCSC Ensembl
Outerchr5:83974867..83991661hg18UCSC Ensembl
Outerchr5:83974867..83991661hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3816795
hg1916795
hg1816795
hg1716795
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621584
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)nsv511109
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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