A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510748



Internal ID15826773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69740525..69806102hg38UCSC Ensembl
Outerchr18:67407761..67473338hg19UCSC Ensembl
Outerchr18:65558741..65624318hg18UCSC Ensembl
Outerchr18:65558741..65624318hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3865578
hg1965578
hg1865578
hg1765578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622738
SamplesNA18994
Known GenesDOK6
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)nsv510748
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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