A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7163n152



Internal ID22822866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3631387..3668750hg38UCSC Ensembl
chr5:3631501..3668864hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3837364
hg1937364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223161, nsv3225911
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7163n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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