A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4520576



Internal ID20250695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143500750..143502374hg38UCSC Ensembl
chr3:143219592..143221216hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15882718
Samples
Known GenesSLC9A9
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)nsv4520576
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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