A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226199



Internal ID22369084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51670270..51699597hg38UCSC Ensembl
Outerchr18:49196640..49225967hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3829328
hg1929328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262081, nssv14262079, nssv14262078, nssv14262080
SamplesHG00512, NA19239, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226199
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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