A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216568



Internal ID22362523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45038874..45067881hg38UCSC Ensembl
Outerchr18:42618839..42647846hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3829008
hg1929008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262824
SamplesNA19238
Known GenesSETBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216568
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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