A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968123



Internal ID20040063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95313914..95325428hg38UCSC Ensembl
chr2:95979662..95991176hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3811515
hg1911515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065675
Supporting Variants
Samples
Known GenesKCNIP3
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)nssv15968123
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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