A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510739



Internal ID15826764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48828582..48910904hg38UCSC Ensembl
Outerchr18:46354953..46437274hg19UCSC Ensembl
Outerchr18:44608951..44691272hg18UCSC Ensembl
Outerchr18:44608951..44691272hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3882323
hg1982322
hg1882322
hg1782322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618955
SamplesNA10860
Known GenesCTIF
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)nsv510739
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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