A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946219



Internal ID20018160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106994443..106998485hg38UCSC Ensembl
chrX:106237673..106241715hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg384043
hg194043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047269
Supporting Variants
Samples
Known GenesMORC4
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)nssv15946219
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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