A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508518



Internal ID15824545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:83851421..83937442hg38UCSC Ensembl
Outerchr8:84763656..84849677hg19UCSC Ensembl
Outerchr8:84926211..85012232hg18UCSC Ensembl
Outerchr8:84926211..85012232hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3886022
hg1986022
hg1886022
hg1786022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618837
SamplesNA10860
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)nsv508518
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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