A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241800



Internal ID22375072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78214972..78245969hg38UCSC Ensembl
Outerchr18:75974972..76005969hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383628
hg193628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262137, nssv14262136, nssv14262135, nssv14262631, nssv14262629, nssv14262138, nssv14262630
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241800
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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