A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4169854



Internal ID20040863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30680983..30692483hg38UCSC Ensembl
chr8:30538500..30550000hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3811501
hg1911501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15929754
Samples
Known GenesGSR
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)nsv4169854
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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