A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4210020



Internal ID20416424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13630168..13664200hg38UCSC Ensembl
chr12:13783102..13817134hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3834033
hg1934033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954483
Samples
Known GenesGRIN2B
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)nsv4210020
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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