A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240561



Internal ID22374734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53897171..53909294hg38UCSC Ensembl
Outerchr18:51423541..51435664hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385695
hg195695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262894, nssv14262892, nssv14262893
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240561
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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