A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981065



Internal ID20053005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75109208..75128299hg38UCSC Ensembl
chr7:74525000..74544100hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819092
hg1919101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4133641
Supporting Variants
Samples
Known GenesGTF2IRD2, GTF2IRD2B
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)nssv15981065
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002911


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