A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3539n152



Internal ID22819242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36387392..36454803hg38UCSC Ensembl
chr17:34755962..34815071hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3867412
hg1959110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3230443, nsv3237176
SamplesNA19239
Known GenesTBC1D3G, TBC1D3H
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3539n152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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