A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575797



Internal ID19958986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110024128..110024129hg38UCSC Ensembl
chr12:110461933..110461934hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16003416
Samples
Known GenesANKRD13A
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)nsv4575797
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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