A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791035



Internal ID19863105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29631931..29910233hg38UCSC Ensembl
chr7:29671547..29949849hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38278303
hg19278303
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568360
Supporting Variants
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, WIPF3, ZNRF2P2
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)nssv15791035
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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