A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15871997



Internal ID19597251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172006266..172011317hg38UCSC Ensembl
chr2:172871172..172876224hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385052
hg195053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4078262
Supporting Variants
Samples
Known GenesMETAP1D
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)nssv15871997
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000052


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