A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236277



Internal ID22373538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58208773..58216607hg38UCSC Ensembl
Outerchr18:55876005..55883839hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262902, nssv14262905, nssv14262904, nssv14262903, nssv14262901, nssv14262900, nssv14262906
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesNEDD4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236277
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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