A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566183



Internal ID20296070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125547957..125547958hg38UCSC Ensembl
chr9:128310236..128310237hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16086141
Samples
Known GenesMAPKAP1
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)nsv4566183
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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