A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982537



Internal ID19707791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103294116..103307145hg38UCSC Ensembl
chr7:102934563..102947592hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3813030
hg1913030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170032
Supporting Variants
Samples
Known GenesPMPCB
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)nssv15982537
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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