A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4223865



Internal ID20426299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77549521..77556903hg38UCSC Ensembl
chr12:77943301..77950683hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg387383
hg197383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv529n166
Supporting Variantsnssv15809273
Samples
Known Genes
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)nsv4223865
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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