A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509689



Internal ID15477187
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
hg386272
hg196272
hg186272
hg176272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619725, nssv623732
SamplesNA18994, NA10860
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)nsv509689
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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