A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157813



Internal ID20032090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78757649..78760846hg38UCSC Ensembl
chr8:79669884..79673081hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg383198
hg193198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15932525
Samples
Known GenesIL7
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 ID12345678
Accession Number(s)nsv4157813
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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