A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970653



Internal ID20042593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75057999..75223878hg38UCSC Ensembl
chr3:75107150..75273029hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38165880
hg19165880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082498
Supporting Variants
Samples
Known GenesMIR4444-1
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)nssv15970653
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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