A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15878434



Internal ID19603688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:28417525..28460041hg38UCSC Ensembl
chr3:28459016..28501532hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3842517
hg1942517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4077287
Supporting Variants
Samples
Known GenesZCWPW2
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)nssv15878434
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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