A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050429



Internal ID19829452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66019853..66581502hg38UCSC Ensembl
chrX:65239695..65801344hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38561650
hg19561650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2893n166
Supporting Variantsnssv15989523
Samples
Known GenesHEPH, VSIG4
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)nsv4050429
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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