A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509695



Internal ID15825721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50437984..50458960hg38UCSC Ensembl
Outerchr18:47964354..47985330hg19UCSC Ensembl
Outerchr18:46218352..46239328hg18UCSC Ensembl
Outerchr18:46218352..46239328hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg389071
hg199071
hg189071
hg179071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619729
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)nsv509695
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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