A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569767



Internal ID20299648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64458583..64638606hg38UCSC Ensembl
chr1:64924266..65104289hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38180024
hg19180024
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788867
Samples
Known GenesCACHD1, MIR4794
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4569767
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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