A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227769



Internal ID22370160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24317831..24325463hg38UCSC Ensembl
Outerchr18:21897795..21905427hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387633
hg197633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262800, nssv14262802, nssv14262801
SamplesNA19238, NA19239, HG00732
Known GenesMIR320C2, OSBPL1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227769
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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