A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518943



Internal ID19902373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221972657..223027658hg38UCSC Ensembl
chr1:222145999..223201000hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381055002
hg191055002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964146
Samples
Known GenesAIDA, BROX, DISP1, FAM177B, HHIPL2, MIA3, TAF1A
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)nsv4518943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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