A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126900



Internal ID20356457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:432036..919240hg38UCSC Ensembl
chr5:432151..919355hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38487205
hg19487205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974350
Samples
Known GenesAHRR, BRD9, C5orf55, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP, TRIP13, ZDHHC11
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)nsv4126900
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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