A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342092



Internal ID19840942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55500912..56392758hg38UCSC Ensembl
chr12:55894696..56786542hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38891847
hg19891847
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787771
Samples
Known GenesANKRD52, APOF, BLOC1S1, BLOC1S1-RDH5, CD63, CDK2, CNPY2, COQ10A, CS, DGKA, DNAJC14, ERBB3, ESYT1, GDF11, IKZF4, IL23A, ITGA7, METTL7B, MMP19, MYL6, MYL6B, NABP2, OR10P1, OR2AP1, OR6C4, ORMDL2, PA2G4, PAN2, PMEL, RAB5B, RDH5, RNF41, RPL41, RPS26, SARNP, SLC39A5, SMARCC2, STAT2, SUOX, TMEM198B, WIBG, ZC3H10
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 ID12345678
Accession Number(s)nsv4342092
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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