A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240583



Internal ID22374741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111016468..111026782hg38UCSC Ensembl
Outerchr12:111454272..111464586hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256027
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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