A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852617



Internal ID19924560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83801244..83801799hg38UCSC Ensembl
chr1:84266927..84267482hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517383
Supporting Variants
Samples
Known GenesMIR548AP
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)nssv15852617
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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