A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969678



Internal ID20041618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97672537..97687587hg38UCSC Ensembl
chr2:98289000..98304050hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3815051
hg1915051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4070174
Supporting Variants
Samples
Known GenesLINC01125
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 ID32461652
Accession Number(s)nssv15969678
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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