A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789414



Internal ID19861465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1333952..1483903hg38UCSC Ensembl
chr2:1337724..1487675hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38149952
hg19149952
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4344202
Supporting Variants
Samples
Known GenesSNTG2, TPO
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15789414
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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