A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516858



Internal ID20246977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185319228..185352645hg38UCSC Ensembl
chr1:185288360..185321777hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3833418
hg1933418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857586
Samples
Known GenesLOC100288079
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)nsv4516858
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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