A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16075325



Internal ID19800579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45013449..45013450hg38UCSC Ensembl
chr7:45053048..45053049hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570144
Supporting Variants
Samples
Known GenesCCM2
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)nssv16075325
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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