A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2864n152



Internal ID22818567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28404963..28506689hg38UCSC Ensembl
chr15:28650109..28751835hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38101727
hg19101727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243676, nsv3237550
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known GenesMIR4509-1, MIR4509-2, MIR4509-3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2864n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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