A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988566



Internal ID20060509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75230239..75437916hg38UCSC Ensembl
chrX:74450074..74657751hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38207678
hg19207678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4040370
Supporting Variants
Samples
Known GenesUPRT, ZDHHC15
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)nssv15988566
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00019


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