A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075445



Internal ID20318911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39956878..39974279hg38UCSC Ensembl
chr3:39998369..40015770hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3817402
hg1917402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879240
Samples
Known GenesMYRIP
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)nsv4075445
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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