A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15909523



Internal ID19981463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24878884..24879220hg38UCSC Ensembl
chr6:24879112..24879448hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4523303
Supporting Variants
Samples
Known GenesFAM65B
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)nssv15909523
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.231369


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