A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036252



Internal ID19819530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155902021..156003787hg38UCSC Ensembl
chrX:155131685..155233452hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38101767
hg19101768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2960n166
Supporting Variantsnssv15989473
Samples
Known GenesIL9R, VAMP7
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 ID12345678
Accession Number(s)nsv4036252
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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