A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522688



Internal ID20252807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171229812..171230546hg38UCSC Ensembl
chr5:170656816..170657550hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977769
Samples
Known GenesRANBP17
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)nsv4522688
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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