A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15837664



Internal ID19909750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76484063..76488275hg38UCSC Ensembl
chr17:74480145..74484357hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384213
hg194213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4257493
Supporting Variants
Samples
Known GenesRHBDF2
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)nssv15837664
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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