A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508498



Internal ID15480174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:20127378..20174629hg38UCSC Ensembl
Outerchr8:19984889..20032140hg19UCSC Ensembl
Outerchr8:20029169..20076420hg18UCSC Ensembl
Outerchr8:20029169..20076420hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3847252
hg1947252
hg1847252
hg1747252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617358
SamplesCHM
Known GenesSLC18A1
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)nsv508498
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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