A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623732



Internal ID15475619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37436949..37539812hg38UCSC Ensembl
Outerchr18:35016912..35119775hg19UCSC Ensembl
Outerchr18:33270910..33373773hg18UCSC Ensembl
Outerchr18:33270910..33373773hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386069
hg196069
hg186069
hg176069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509689
Supporting Variants
SamplesNA18994
Known GenesCELF4
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)nssv623732
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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