A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522595



Internal ID20252714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95658516..95659066hg38UCSC Ensembl
chr5:94994220..94994770hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15903743
Samples
Known GenesSPATA9
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)nsv4522595
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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