A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15918034



Internal ID19643288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44613436..44616957hg38UCSC Ensembl
chr7:44653035..44656556hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383522
hg193522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4136843
Supporting Variants
Samples
Known GenesOGDH
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)nssv15918034
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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