A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262802



Internal ID22275367
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227769
Supporting Variants
SamplesNA19239
Known GenesMIR320C2, OSBPL1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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