A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075390



Internal ID19972178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9052999..9369738hg38UCSC Ensembl
chr3:9094683..9411422hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38316740
hg19316740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971445
Samples
Known GenesSRGAP3, SRGAP3-AS3, THUMPD3
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)nsv4075390
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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