A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4072553



Internal ID19970078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68734797..68735029hg38UCSC Ensembl
chr3:68783948..68784180hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972619
Samples
Known GenesFAM19A4
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)nsv4072553
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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