A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508358



Internal ID15824385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58377403..58413857hg38UCSC Ensembl
Outerchr5:57673230..57709684hg19UCSC Ensembl
Outerchr5:57708987..57745441hg18UCSC Ensembl
Outerchr5:57708987..57745441hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3836455
hg1936455
hg1836455
hg1736455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622522, nssv618767, nssv617511, nssv619956
SamplesCHM, NA15510, NA18994, 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)nsv508358
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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