A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249247



Internal ID22377223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25482504..25544384hg38UCSC Ensembl
Outerchr15:25727651..25789531hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258601, nssv14258602, nssv14258603, nssv14258600
SamplesHG00512, NA19238, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249247
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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