A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16051619



Internal ID20123575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37834668..37834669hg38UCSC Ensembl
chr4:37836290..37836291hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557454
Supporting Variants
Samples
Known GenesPGM2
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)nssv16051619
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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