A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16076372



Internal ID20148328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116773779..116773780hg38UCSC Ensembl
chr7:116413833..116413834hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4551255
Supporting Variants
Samples
Known GenesMET
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)nssv16076372
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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