A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340954



Internal ID20187413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:505819..643918hg38UCSC Ensembl
chr12:614985..753084hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38138100
hg19138100
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787684
Samples
Known GenesB4GALNT3, NINJ2
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)nsv4340954
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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