A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2513n152



Internal ID22818216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113865221..113906639hg38UCSC Ensembl
chr13:114568194..114609612hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3841419
hg1941419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3235964, nsv3236861
SamplesNA19238, NA19239, HG00731, NA19240
Known GenesGAS6-AS2, LINC00452
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2513n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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