A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547267



Internal ID22416243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144077028..144882807hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38805780
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465264, nssv14457775, nssv14453859, nssv14458962, nssv14461404, nssv14454898, nssv14462726
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3547267
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