A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16034816



Internal ID19760070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36701023..36701024hg38UCSC Ensembl
chr2:36928166..36928167hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4536651
Supporting Variants
Samples
Known GenesVIT
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)nssv16034816
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023283


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