A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16057939



Internal ID19783193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168867979..168867980hg38UCSC Ensembl
chr4:169789130..169789131hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4538987
Supporting Variants
Samples
Known GenesPALLD
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)nssv16057939
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001798


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