A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15942716



Internal ID19667970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55930795..55930846hg38UCSC Ensembl
chrX:55957228..55957279hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036275
Supporting Variants
Samples
Known Genes
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)nssv15942716
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002034


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