A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217884



Internal ID20422053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82354956..82360304hg38UCSC Ensembl
chr12:82748735..82754083hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385349
hg195349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812711
Samples
Known GenesCCDC59, METTL25
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)nsv4217884
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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