A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947776



Internal ID19673030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132375241..132375774hg38UCSC Ensembl
chrX:131509269..131509802hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049998
Supporting Variants
Samples
Known GenesMBNL3
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)nssv15947776
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000323


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