A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4109663



Internal ID20344232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141256211..141256306hg38UCSC Ensembl
chr3:140975053..140975148hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883000
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)nsv4109663
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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