A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075918



Internal ID20319239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226880513..226890298hg38UCSC Ensembl
chr2:227745229..227755014hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389786
hg199786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877451
Samples
Known GenesRHBDD1
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)nsv4075918
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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