A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949975



Internal ID20021915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:156008635..156019835hg38UCSC Ensembl
chrX:155238300..155249500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3811201
hg1911201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049680
Supporting Variants
Samples
Known GenesIL9R
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)nssv15949975
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.404425


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