A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4082830



Internal ID19977641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57762723..57769225hg38UCSC Ensembl
chr3:57748450..57754952hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386503
hg196503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972487
Samples
Known GenesSLMAP
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 ID12345678
Accession Number(s)nsv4082830
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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