A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15881443



Internal ID19953383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107638150..107640692hg38UCSC Ensembl
chr3:107356997..107359539hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4073173
Supporting Variants
Samples
Known GenesBBX
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)nssv15881443
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00106


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