A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891495



Internal ID19963435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41032797..41064013hg38UCSC Ensembl
chr4:41034814..41066030hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3831217
hg1931217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4100214
Supporting Variants
Samples
Known GenesAPBB2
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)nssv15891495
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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