A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971332



Internal ID20043272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100618191..100624593hg38UCSC Ensembl
chr3:100337035..100343437hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg386403
hg196403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4077446
Supporting Variants
Samples
Known GenesGPR128
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)nssv15971332
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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