A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509692



Internal ID15825718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46725730..46773626hg38UCSC Ensembl
Outerchr18:44305693..44353589hg19UCSC Ensembl
Outerchr18:42559691..42607587hg18UCSC Ensembl
Outerchr18:42559691..42607587hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384638
hg194638
hg184638
hg174638
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621049
SamplesNA15510
Known GenesST8SIA5
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)nsv509692
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer