A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243485



Internal ID22375584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:23215987..23219503hg38UCSC Ensembl
Outerchr18:20795951..20799467hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262456
SamplesHG00731
Known GenesCABLES1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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