A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4120888



Internal ID20352251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185174050..185184143hg38UCSC Ensembl
chr4:186095204..186105297hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3810094
hg1910094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1909n166
Supporting Variantsnssv15975744
Samples
Known GenesKIAA1430
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)nsv4120888
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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