A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032481



Internal ID19816853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136487339..136507535hg38UCSC Ensembl
chrX:135569498..135589694hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3820197
hg1920197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989942
Samples
Known GenesBRS3, HTATSF1
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)nsv4032481
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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