A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219566



Internal ID22364554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3649364..3652069hg38UCSC Ensembl
Outerchr18:3649364..3652069hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382706
hg192706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262024
SamplesNA19239
Known GenesDLGAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219566
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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