A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276581



Internal ID20461582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48957181..48957182hg38UCSC Ensembl
chr1:49422853..49422854hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16024664
Samples
Known GenesAGBL4
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)nsv4276581
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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