A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4037486



Internal ID20167063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66244917..66279233hg38UCSC Ensembl
chrX:65464759..65499075hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3834317
hg1934317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989528
Samples
Known GenesHEPH
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)nsv4037486
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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