A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15851585



Internal ID19923556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24569283..24574371hg38UCSC Ensembl
chr1:24895774..24900862hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385089
hg195089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4037203
Supporting Variants
Samples
Known GenesNCMAP
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)nssv15851585
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.047064


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