A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990446



Internal ID19715700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153916950..153917530hg38UCSC Ensembl
chrX:153182404..153182984hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047754
Supporting Variants
Samples
Known GenesARHGAP4
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)nssv15990446
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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