A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7516n152



Internal ID22823219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126129676..126171795hg38UCSC Ensembl
chr5:125465369..125507488hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3842120
hg1942120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221313, nsv3226407
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7516n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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