A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16043320



Internal ID20115276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216073109..216073110hg38UCSC Ensembl
chr2:216937832..216937833hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4572866
Supporting Variants
Samples
Known GenesPECR
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)nssv16043320
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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