A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032458



Internal ID19816836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154459866..154459954hg38UCSC Ensembl
chrX:153688206..153688294hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2947n166
Supporting Variantsnssv15945358
Samples
Known GenesPLXNA3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4032458
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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