A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036037



Internal ID20166042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108162399..108162489hg38UCSC Ensembl
chrX:107405629..107405719hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2920n166
Supporting Variantsnssv15988716
Samples
Known GenesCOL4A6
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)nsv4036037
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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