A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988811



Internal ID20060754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48386557..48442621hg38UCSC Ensembl
chrX:48245999..48301000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3856065
hg1955002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4516827
Supporting Variants
Samples
Known GenesSSX4, SSX4B
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 ID32461652
Accession Number(s)nssv15988811
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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