A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4180416



Internal ID20395059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68330084..68388084hg38UCSC Ensembl
chr9:70945000..71003000hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3858001
hg1958001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935430
Samples
Known GenesPGM5, PGM5-AS1
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)nsv4180416
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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