A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15786148



Internal ID19511466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3832959..3923409hg38UCSC Ensembl
chrX:3751000..3841450hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3890451
hg1990451
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4046336
Supporting Variants
Samples
Known GenesLOC389906
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)nssv15786148
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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