A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508384



Internal ID15824411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152059021..152107765hg38UCSC Ensembl
Outerchr5:151438582..151487326hg19UCSC Ensembl
Outerchr5:151418775..151467519hg18UCSC Ensembl
Outerchr5:151418775..151467519hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3848745
hg1948745
hg1848745
hg1748745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618780, nssv622536, nssv619963, nssv617514
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)nsv508384
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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