A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528233



Internal ID20258352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7003782..7004522hg38UCSC Ensembl
chr12:7111087..7111827hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15806288
Samples
Known GenesLPCAT3
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)nsv4528233
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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