A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183200



Internal ID20050367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22554876..22559943hg38UCSC Ensembl
chr10:22843805..22848872hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg385068
hg195068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15792974
Samples
Known GenesPIP4K2A
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)nsv4183200
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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