A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949956



Internal ID19675210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155704338..156004335hg38UCSC Ensembl
chrX:154933999..155234000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38299998
hg19300002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517571
Supporting Variants
Samples
Known GenesIL9R, SPRY3, VAMP7
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)nssv15949956
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000415


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