A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048352



Internal ID20174616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155232645..155248780hg38UCSC Ensembl
chrX:154460927..154477063hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3816136
hg1916137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990464
Samples
Known GenesVBP1
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)nsv4048352
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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