A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221235



Internal ID20424431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86047537..86090653hg38UCSC Ensembl
chr12:86441315..86484431hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3843117
hg1943117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948703
Samples
Known GenesMGAT4C
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)nsv4221235
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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