A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041839



Internal ID20170065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66565261..66617156hg38UCSC Ensembl
chrX:65785103..65836998hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3851896
hg1951896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15943473
Samples
Known GenesEDA2R
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)nsv4041839
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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