A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456257



Internal ID22143570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28457770..28740547hg38UCSC Ensembl
chr16:28469091..28751868hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38282778
hg19282778
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553876
Supporting Variants
SamplesHG00513
Known GenesAPOBR, CCDC101, CLN3, EIF3C, EIF3CL, IL27, MIR6862-1, MIR6862-2, NUPR1, SULT1A1, SULT1A2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456257
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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