A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263233



Internal ID22120160
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233741
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263233
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