A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4112044



Internal ID20345989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65856318..65874423hg38UCSC Ensembl
chr4:66722036..66740141hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3818106
hg1918106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1831n166
Supporting Variantsnssv15890484
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)nsv4112044
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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