A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2960n166



Internal ID20168388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155886194..156004958hg38UCSC Ensembl
chrX:155115857..155234623hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38118765
hg19118767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4037172, nsv4036252
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)dgv2960n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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