A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466380



Internal ID22323255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18607041..18827456hg38UCSC Ensembl
chr17:18510354..18730769hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38220416
hg19220416
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545843
Supporting Variants
SamplesNA19240
Known GenesCCDC144B, FBXW10, FOXO3B, TBC1D28, TRIM16L, TVP23B, ZNF286B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466380
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