A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220506



Internal ID20077245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81184358..81206369hg38UCSC Ensembl
chr14:81650702..81672713hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3822012
hg1922012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952816
Samples
Known GenesGTF2A1, SNORA79
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)nsv4220506
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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