A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510734



Internal ID15826759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28691601..28703786hg38UCSC Ensembl
Outerchr18:26271565..26283750hg19UCSC Ensembl
Outerchr18:24525563..24537748hg18UCSC Ensembl
Outerchr18:24525563..24537748hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3812186
hg1912186
hg1812186
hg1712186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620106
SamplesNA15510
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)nsv510734
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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