A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232463



Internal ID22372505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110816257..110818131hg38UCSC Ensembl
Outerchr10:112576015..112577889hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3821588
hg1921588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252905
SamplesHG00732
Known GenesRBM20
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232463
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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