A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571965



Internal ID20301843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34003288..34003289hg38UCSC Ensembl
chr5:34003393..34003394hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg385840
hg195840
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16061255
Samples
Known GenesAMACR, C1QTNF3-AMACR
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)nsv4571965
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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