A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791172



Internal ID19863244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101996244..101997955hg38UCSC Ensembl
chr7:101639524..101641235hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381712
hg191712
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333674
Supporting Variants
Samples
Known GenesCUX1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15791172
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.0059


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