A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4548775



Internal ID20278650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141263981..141263982hg38UCSC Ensembl
chr3:140982823..140982824hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16049914
Samples
Known GenesACPL2
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)nsv4548775
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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