A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234332



Internal ID22373001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:24750821..24773692hg38UCSC Ensembl
Outerchr15:24995968..25018839hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3820408
hg1920408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259062, nssv14258528
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234332
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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