A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4125977



Internal ID20355783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:843954..1095060hg38UCSC Ensembl
chr5:844069..1095175hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38251107
hg19251107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1927n166
Supporting Variantsnssv15974373
Samples
Known GenesBRD9, LOC100506688, MIR4635, NKD2, SLC12A7, 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)nsv4125977
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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