A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4059176



Internal ID20182331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226978183..226978796hg38UCSC Ensembl
chr1:227165884..227166497hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964768
Samples
Known GenesADCK3
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 ID32461652
Accession Number(s)nsv4059176
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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