A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090496



Internal ID19815765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112788974..112788975hg38UCSC Ensembl
chrX:112032202..112032203hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562855
Supporting Variants
Samples
Known GenesAMOT
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)nssv16090496
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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