A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179804



Internal ID20394638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75523906..75525849hg38UCSC Ensembl
chr9:78138822..78140765hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986759
Samples
Known GenesMIR548H3
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)nsv4179804
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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