A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16088978



Internal ID19814248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108115673..108115674hg38UCSC Ensembl
chrX:107358903..107358904hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566735
Supporting Variants
Samples
Known GenesATG4A
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)nssv16088978
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000185


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