A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508500



Internal ID15480176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25132804..25217975hg38UCSC Ensembl
Outerchr8:24990319..25075491hg19UCSC Ensembl
Outerchr8:25046236..25131408hg18UCSC Ensembl
Outerchr8:25046236..25131408hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3885172
hg1985173
hg1885173
hg1785173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618829, nssv622592, nssv620005
SamplesNA18994, NA15510, NA10860
Known GenesDOCK5
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)nsv508500
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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