A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131029



Internal ID20359358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12654331..12803607hg38UCSC Ensembl
chr5:12654443..12803719hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38149277
hg19149277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15899446
Samples
Known GenesCT49
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)nsv4131029
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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