A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975301



Internal ID19700555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33944271..34753719hg38UCSC Ensembl
chr5:33944376..34753824hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38809449
hg19809449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4124350
Supporting Variants
Samples
Known GenesAMACR, C1QTNF3, C1QTNF3-AMACR, RAI14, SLC45A2
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 ID12345678
Accession Number(s)nssv15975301
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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