A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2525n152



Internal ID22818228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114066492..114122968hg38UCSC Ensembl
chr13:114831967..114888443hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3856477
hg1956477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3249054, nsv3246547
SamplesHG00512, HG00731
Known GenesRASA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2525n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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