A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240764



Internal ID22374782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:27610249..27640240hg38UCSC Ensembl
Outerchr15:27855395..27885386hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg386030
hg196030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259438, nssv14259439
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240764
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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