A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157570



Internal ID20378582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39657430..39729810hg38UCSC Ensembl
chr8:39514949..39587329hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3872381
hg1972381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15930592
Samples
Known GenesADAM18
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)nsv4157570
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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