A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250143



Internal ID22377456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4510425..4537958hg38UCSC Ensembl
Outerchr18:4510425..4537958hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262414
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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