A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242614



Internal ID22375329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36462144..36475468hg38UCSC Ensembl
Outerchr18:34042107..34055431hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261889, nssv14261884, nssv14261887, nssv14261881, nssv14261886, nssv14261883, nssv14261885, nssv14261882, nssv14261888
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFHOD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242614
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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