A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989303



Internal ID20061246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119923003..119930956hg38UCSC Ensembl
chrX:119056966..119064919hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387954
hg197954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050505
Supporting Variants
Samples
Known GenesNKAP
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)nssv15989303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005135


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