A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343667



Internal ID19841230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22876628..25013957hg38UCSC Ensembl
chr13:23450767..25588095hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg382137330
hg192137329
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787913
Samples
Known GenesANKRD20A19P, ATP12A, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, CENPJ, LINC00327, MIPEP, MIR2276, PARP4, RNF17, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19, TPTE2P1, TPTE2P6
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)nsv4343667
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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