A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4543418



Internal ID19926607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112733401..112733402hg38UCSC Ensembl
chr5:112069098..112069099hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16063995
Samples
Known GenesAPC
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)nsv4543418
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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