A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15941253



Internal ID19666507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1664336..2357134hg38UCSC Ensembl
chrX:1783229..2275175hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38692799
hg19491947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4032516
Supporting Variants
Samples
Known GenesDHRSX
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)nssv15941253
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000106


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