A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980609



Internal ID20052549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72805249..73015471hg38UCSC Ensembl
chr7:72275800..72486000hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38210223
hg19210201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4133163
Supporting Variants
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, STAG3L1, STAG3L3, TYW1B
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 ID32461652
Accession Number(s)nssv15980609
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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