A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv652n152



Internal ID22816355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243978083..243983208hg38UCSC Ensembl
chr1:244141385..244146510hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385126
hg195126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214580, nsv3224139
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesLOC339529
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv652n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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