A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235854



Internal ID22373414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37788451..37790241hg38UCSC Ensembl
Outerchr19:38279091..38280881hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264053, nssv14264052
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235854
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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