A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955598



Internal ID19680852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74994783..75005907hg38UCSC Ensembl
chr16:75028681..75039805hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3811125
hg1911125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237175
Supporting Variants
Samples
Known GenesZNRF1
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)nssv15955598
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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