A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4088908



Internal ID20328778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69356098..69362623hg38UCSC Ensembl
chr3:69405249..69411774hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg386526
hg196526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15881888
Samples
Known GenesFRMD4B
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)nsv4088908
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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