A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3009n152



Internal ID22818712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83865144..83878395hg38UCSC Ensembl
chr15:84533896..84547147hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3813252
hg1913252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222387, nsv3212375
SamplesNA19238, HG00513, HG00514
Known GenesADAMTSL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3009n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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