A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4118847



Internal ID20350794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149881880..149882845hg38UCSC Ensembl
chr5:149261443..149262408hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904300
Samples
Known GenesPDE6A
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)nsv4118847
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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