A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240109



Internal ID22374605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:35358450..35375437hg38UCSC Ensembl
Outerchr15:35650651..35667638hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg386030
hg196030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259441, nssv14259442
SamplesNA19239, NA19240
Known GenesDPH6, MIR3942
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240109
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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