A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4084164



Internal ID19978652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241148585..241153585hg38UCSC Ensembl
chr2:242088000..242093000hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971608
Samples
Known GenesPASK, PPP1R7
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 ID12345678
Accession Number(s)nsv4084164
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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