A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230694



Internal ID22372004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54129186..54143918hg38UCSC Ensembl
Outerchr19:54632561..54647654hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383680
hg193680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263789
SamplesHG00731
Known GenesCNOT3, PRPF31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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