A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033169



Internal ID20164004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3816959..3833959hg38UCSC Ensembl
chrX:3735000..3752000hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987753
Samples
Known GenesLOC389906
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)nsv4033169
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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