A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4091702



Internal ID19984150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15293198..15621636hg38UCSC Ensembl
chr3:15334705..15663143hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38328439
hg19328439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970592
Samples
Known GenesBTD, COLQ, EAF1, HACL1, METTL6, MIR4270, SH3BP5
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)nsv4091702
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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