A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339946



Internal ID20187201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12764251..12779712hg38UCSC Ensembl
chr12:12917185..12932646hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3815462
hg1915462
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787705
Samples
Known GenesAPOLD1, MIR613
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)nsv4339946
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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