A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987023



Internal ID20058964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:6379707..6609153hg38UCSC Ensembl
chrX:6297748..6527194hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38229447
hg19229447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4043972
Supporting Variants
Samples
Known GenesMIR4770, VCX3A
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)nssv15987023
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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