A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232473



Internal ID22372510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2711969..2715662hg38UCSC Ensembl
Outerchr19:2711967..2715660hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263797, nssv14263796
SamplesHG00732, HG00733
Known GenesDIRAS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232473
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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