A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968772



Internal ID20040712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107278045..108189618hg38UCSC Ensembl
chr2:107894501..108806074hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38911574
hg19911574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059742
Supporting Variants
Samples
Known GenesRGPD4, RGPD4-AS1, SLC5A7
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)nssv15968772
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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