A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791024



Internal ID19863093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22810094..22863934hg38UCSC Ensembl
chr7:22849713..22903553hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3853841
hg1953841
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340194
Supporting Variants
Samples
Known GenesSNORD93, TOMM7
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)nssv15791024
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer