A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988652



Internal ID20060595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102876648..102881959hg38UCSC Ensembl
chrX:102131576..102136887hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg385312
hg195312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050655
Supporting Variants
Samples
Known GenesLINC00630
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)nssv15988652
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003703


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