A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096125



Internal ID20334169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128721657..128727257hg38UCSC Ensembl
chr3:128440500..128446100hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972259
Samples
Known GenesRAB7A
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)nsv4096125
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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