A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15943922



Internal ID20015862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85329644..85330342hg38UCSC Ensembl
chrX:84584650..84585348hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4040885
Supporting Variants
Samples
Known GenesPOF1B
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)nssv15943922
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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