A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4216039



Internal ID20074062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628459..123712468hg38UCSC Ensembl
chr12:124113006..124197015hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884010
hg1984010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950574
Samples
Known GenesATP6V0A2, EIF2B1, GTF2H3, TCTN2
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 ID12345678
Accession Number(s)nsv4216039
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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