A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217957



Internal ID22363460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3323146..3370632hg38UCSC Ensembl
Outerchr18:3323144..3370630hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3847487
hg1947487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262279, nssv14262280
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217957
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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