A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15878583



Internal ID19603837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37383364..37412296hg38UCSC Ensembl
chr3:37424855..37453787hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3828933
hg1928933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4077178
Supporting Variants
Samples
Known GenesC3orf35
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)nssv15878583
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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