A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4180924



Internal ID20395419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:82203212..82209202hg38UCSC Ensembl
chr10:83962968..83968958hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg385991
hg195991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15796443
Samples
Known GenesNRG3
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)nsv4180924
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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