A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949177



Internal ID20021117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150417726..150429437hg38UCSC Ensembl
chrX:149586000..149597700hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3811712
hg1911701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033538
Supporting Variants
Samples
Known GenesMAMLD1
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)nssv15949177
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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