A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974048



Internal ID20045988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42465890..42476477hg38UCSC Ensembl
chr4:42467907..42478494hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3810588
hg1910588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104229
Supporting Variants
Samples
Known GenesATP8A1
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)nssv15974048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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