A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908954



Internal ID19634208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24424100..24424480hg38UCSC Ensembl
chr6:24424328..24424708hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117073
Supporting Variants
Samples
Known GenesMRS2
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 ID12345678
Accession Number(s)nssv15908954
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004242


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