A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622733



Internal ID15821306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:41280462..41291478hg38UCSC Ensembl
Outerchr18:38860426..38871442hg19UCSC Ensembl
Outerchr18:37114424..37125440hg18UCSC Ensembl
Outerchr18:37114424..37125440hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3811017
hg1911017
hg1811017
hg1711017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510737
Supporting Variants
SamplesNA18994
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)nssv622733
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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