A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3570n152



Internal ID22819273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43229876..43378861hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38148986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243341, nsv3233524, nsv3242030
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3570n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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