A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212642



Internal ID22359823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:33816952..33842669hg38UCSC Ensembl
Outerchr18:31396916..31422633hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3825718
hg1925718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262805
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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