A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508514



Internal ID15824541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74443856..74471541hg38UCSC Ensembl
Outerchr8:75356091..75383776hg19UCSC Ensembl
Outerchr8:75518646..75546331hg18UCSC Ensembl
Outerchr8:75518646..75546331hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3827686
hg1927686
hg1827686
hg1727686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622598, nssv618835
SamplesNA18994, 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)nsv508514
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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