A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212375



Internal ID22359643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:83865144..83876134hg38UCSC Ensembl
Outerchr15:84533896..84544886hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3810991
hg1910991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3009n152
Supporting Variantsnssv14258476, nssv14258475
SamplesHG00513, HG00514
Known GenesADAMTSL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212375
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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