A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547390



Internal ID22416362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148891846..149229929hg38UCSC Ensembl
chr1:144502183..144992641hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38338084
hg19490459
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452996, nssv14454002, nssv14465038, nssv14457841, nssv14465895, nssv14456266, nssv14459766, nssv14461220, nssv14460418
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3547390
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