A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950157



Internal ID20022097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131004030..131384568hg38UCSC Ensembl
chr12:131488575..131869113hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38380539
hg19380539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213053
Supporting Variants
Samples
Known GenesGPR133, LOC116437, LOC338797
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)nssv15950157
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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