A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511115



Internal ID15827137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133573398..133592421hg38UCSC Ensembl
Outerchr5:132909089..132928112hg19UCSC Ensembl
Outerchr5:132936988..132956011hg18UCSC Ensembl
Outerchr5:132936988..132956011hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3819024
hg1919024
hg1819024
hg1719024
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618674
SamplesCHM
Known GenesFSTL4
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)nsv511115
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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