A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246036



Internal ID22376302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57018477..57065895hg38UCSC Ensembl
Outerchr18:54685708..54733126hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262767, nssv14262765, nssv14262766
SamplesNA19239, HG00732, NA19240
Known GenesLINC-ROR, WDR7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246036
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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