A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034144



Internal ID20164697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:82198260..82202448hg38UCSC Ensembl
chrX:81453709..81457897hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg384189
hg194189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2900n166
Supporting Variantsnssv15944929
Samples
Known Genes
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)nsv4034144
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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