A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508363



Internal ID15824390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61991251..62067058hg38UCSC Ensembl
Outerchr5:61287078..61362885hg19UCSC Ensembl
Outerchr5:61322835..61398642hg18UCSC Ensembl
Outerchr5:61322835..61398642hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3875808
hg1975808
hg1875808
hg1775808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622524
SamplesNA18994
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)nsv508363
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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