A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221486



Internal ID20077920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88027812..88118905hg38UCSC Ensembl
chr12:88421589..88512682hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3891094
hg1991094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15810055
Samples
Known GenesC12orf29, C12orf50, CEP290
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)nsv4221486
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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