A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867283



Internal ID19592537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42477360..42508860hg38UCSC Ensembl
chr2:42704500..42736000hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831501
hg1931501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065178
Supporting Variants
Samples
Known GenesKCNG3, MTA3
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)nssv15867283
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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