A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4554848



Internal ID20284723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107283878..107283879hg38UCSC Ensembl
chr6:107605082..107605083hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16069768
Samples
Known GenesPDSS2
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)nsv4554848
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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