A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4113679



Internal ID20347145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35083586..35094860hg38UCSC Ensembl
chr5:35083688..35094962hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3811275
hg1911275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15899680
Samples
Known GenesPRLR
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)nsv4113679
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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