A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560025



Internal ID20289908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96252613..96253318hg38UCSC Ensembl
chr12:96646391..96647096hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787845
Samples
Known GenesELK3
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4560025
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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