A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569106



Internal ID20298987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37840940..37841645hg38UCSC Ensembl
chr4:37842561..37843266hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790177
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4569106
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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