A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034227



Internal ID19818079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119745635..119873043hg38UCSC Ensembl
chrX:118879598..119007006hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38127409
hg19127409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989294
Samples
Known GenesNDUFA1, RNF113A, RPL39, SNORA69, SOWAHD, UPF3B
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)nsv4034227
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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