A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511063



Internal ID15827085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43733936..43749178hg38UCSC Ensembl
Outerchr18:41313901..41329143hg19UCSC Ensembl
Outerchr18:39567899..39583141hg18UCSC Ensembl
Outerchr18:39567899..39583141hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3815243
hg1915243
hg1815243
hg1715243
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618677
SamplesCHM
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)nsv511063
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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