A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791225



Internal ID19863298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128288301..128308351hg38UCSC Ensembl
chr7:127928354..127948404hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3820051
hg1920051
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335424
Supporting Variants
Samples
Known GenesMGC27345
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)nssv15791225
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00295


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