A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16017419



Internal ID20089375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49295410..49295411hg38UCSC Ensembl
chr17:47372772..47372773hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548588
Supporting Variants
Samples
Known GenesZNF652
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 ID32461652
Accession Number(s)nssv16017419
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.095352


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