A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233558



Internal ID22372793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76785698..76805514hg38UCSC Ensembl
Outerchr18:74497654..74517470hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262389, nssv14262386, nssv14262388, nssv14262387, nssv14262385
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known GenesLOC100131655
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233558
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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