A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225873



Internal ID20081020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76776336..76817285hg38UCSC Ensembl
chr14:77242679..77283628hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3840950
hg1940950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952786
Samples
Known GenesANGEL1, LOC100506603, VASH1
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)nsv4225873
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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