A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257976



Internal ID20449671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77982390..77987177hg38UCSC Ensembl
chr18:75694346..75699133hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384788
hg194788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15840478
Samples
Known GenesLINC01029
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)nsv4257976
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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