A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239450



Internal ID22374419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25737153..25767596hg38UCSC Ensembl
Outerchr15:25982300..26012743hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2853n152
Supporting Variantsnssv14258532, nssv14258533, nssv14258530, nssv14258531
SamplesHG00512, HG00731, HG00733, HG00513
Known GenesATP10A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239450
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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