A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4098371



Internal ID19989153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138130588..138217748hg38UCSC Ensembl
chr3:137849430..137936590hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3887161
hg1987161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971412
Samples
Known GenesA4GNT, ARMC8, DBR1
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 ID12345678
Accession Number(s)nsv4098371
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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