A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240430



Internal ID22374702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:26880012..26895019hg38UCSC Ensembl
Outerchr15:27125159..27140166hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258534, nssv14258536, nssv14258537, nssv14258535
SamplesHG00512, HG00731, HG00732, HG00513
Known GenesGABRA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240430
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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