A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263789



Internal ID22185710
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230694
Supporting Variants
SamplesHG00731
Known GenesCNOT3, PRPF31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263789
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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