A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509290



Internal ID15825316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144639387..144697408hg38UCSC Ensembl
Outerchr8:145864772..145922793hg19UCSC Ensembl
Outerchr8:145835580..145893602hg18UCSC Ensembl
Outerchr8:145835580..145893602hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385860
hg195860
hg185860
hg175860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619545, nssv623553
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)nsv509290
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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