A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15784247



Internal ID19856249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75279182..75298435hg38UCSC Ensembl
chr7:74694000..74715100hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819254
hg1921101
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047861
Supporting Variants
Samples
Known GenesGTF2IP1, PMS2P5
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)nssv15784247
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.019501


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