A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510741



Internal ID15826766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53464451..53518826hg38UCSC Ensembl
Outerchr18:50990821..51045196hg19UCSC Ensembl
Outerchr18:49244819..49299194hg18UCSC Ensembl
Outerchr18:49244819..49299194hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3854376
hg1954376
hg1854376
hg1754376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622734
SamplesNA18994
Known GenesDCC
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)nsv510741
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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