A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988529



Internal ID19713783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71831654..72570494hg38UCSC Ensembl
chrX:71051504..71790344hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38738841
hg19738841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4038917
Supporting Variants
Samples
Known GenesCITED1, ERCC6L, FLJ44635, HDAC8, NHSL2, PIN4, RGAG4, RPS26P11, RPS4X
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)nssv15988529
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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