A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245344



Internal ID22376124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63458857..63470831hg38UCSC Ensembl
Outerchr18:61126090..61138064hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262961
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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