A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2966n152



Internal ID22818669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68046399..68164345hg38UCSC Ensembl
chr15:68338737..68456683hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38117947
hg19117947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221159, nsv3218776
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPIAS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2966n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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