A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946180



Internal ID19671435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100636489..100646152hg38UCSC Ensembl
chrX:99891486..99901149hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg389664
hg199664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4032711
Supporting Variants
Samples
Known GenesSRPX2, TSPAN6
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)nssv15946180
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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