A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964278



Internal ID20036220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112702744..112768840hg38UCSC Ensembl
chr1:113245366..113311462hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3866097
hg1966097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4061542
Supporting Variants
Samples
Known GenesFAM19A3, PPM1J, RHOC
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)nssv15964278
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000645


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