A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2490n152



Internal ID22818193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113342657..113373445hg38UCSC Ensembl
chr13:113996972..114027760hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3830789
hg1930789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237401, nsv3242645
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2490n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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