A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15881922



Internal ID19607176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70995280..70998632hg38UCSC Ensembl
chr3:71044431..71047783hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg383353
hg193353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088142
Supporting Variants
Samples
Known GenesFOXP1
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)nssv15881922
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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