A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509107



Internal ID15825133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178551191..178591153hg38UCSC Ensembl
Outerchr5:177978192..178018154hg19UCSC Ensembl
Outerchr5:177910798..177950760hg18UCSC Ensembl
Outerchr5:177910798..177950760hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388741
hg198741
hg188741
hg178741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623464, nssv619435
SamplesNA18994, NA10860
Known GenesCOL23A1
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)nsv509107
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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