A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979784



Internal ID19705038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129412..489910hg38UCSC Ensembl
chr7:129412..529547hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38360499
hg19400136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145821
Supporting Variants
Samples
Known GenesFAM20C, LOC100288524, LOC100507642, LOC442497
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 ID12345678
Accession Number(s)nssv15979784
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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