A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4111555



Internal ID20345620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195073677..195074374hg38UCSC Ensembl
chr3:194794406..194795103hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15887546
Samples
Known GenesXXYLT1
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)nsv4111555
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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