A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4058n152



Internal ID22819761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1261847..1329387hg38UCSC Ensembl
chr19:1261846..1329386hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3867541
hg1967541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3247098, nsv3231092
SamplesHG00512, NA19239, HG00732, HG00513
Known GenesC19orf24, CIRBP, CIRBP-AS1, EFNA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4058n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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