A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523455



Internal ID20253574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93854783..93856089hg38UCSC Ensembl
chr5:93190489..93191795hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15903832
Samples
Known GenesFAM172A
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)nsv4523455
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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