A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4533368



Internal ID19916786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12728232..12728233hg38UCSC Ensembl
chr2:12868358..12868359hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16044062
Samples
Known GenesTRIB2
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)nsv4533368
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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