A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263784



Internal ID22223347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47824169..47959374hg38UCSC Ensembl
Outerchr19:48327426..48462631hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3835111
hg1935111
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234511
Supporting Variants
SamplesHG00733
Known GenesCRX, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer