A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873284



Internal ID19598538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121222252..121222643hg38UCSC Ensembl
chr2:121979828..121980219hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4081384
Supporting Variants
Samples
Known GenesTFCP2L1
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)nssv15873284
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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