A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4051354



Internal ID20176697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29774121..29782305hg38UCSC Ensembl
chrX:29792238..29800422hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg388185
hg198185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15943225
Samples
Known GenesIL1RAPL1
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)nsv4051354
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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