A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220242



Internal ID22364997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:40697446..40739771hg38UCSC Ensembl
Outerchr18:38277410..38319735hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3842326
hg1942326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261787
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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