A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233741



Internal ID22372834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56899629..56964742hg38UCSC Ensembl
Outerchr19:57410997..57476110hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382299
hg192299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n152
Supporting Variantsnssv14263235, nssv14263234, nssv14263233
SamplesHG00512, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233741
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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