A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15872570



Internal ID19944510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99634058..99643143hg38UCSC Ensembl
chr2:100250520..100259605hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg389086
hg199086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4061726
Supporting Variants
Samples
Known GenesAFF3
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)nssv15872570
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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