A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4086487



Internal ID20327030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64931827..65295584hg38UCSC Ensembl
chr3:64917502..65281259hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38363758
hg19363758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972563
Samples
Known GenesADAMTS9-AS2, MIR548A2
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)nsv4086487
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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