A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230548



Internal ID22371958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20867177..20885302hg38UCSC Ensembl
Outerchr14:21335336..21353461hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258217
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230548
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