A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15880401



Internal ID19605655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49180456..49271343hg38UCSC Ensembl
chr3:49217889..49308776hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3890888
hg1990888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4076943
Supporting Variants
Samples
Known GenesC3orf62, C3orf84, CCDC36
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)nssv15880401
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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