A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908044



Internal ID19979984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177048402..177053049hg38UCSC Ensembl
chr5:176475403..176480050hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384648
hg194648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4116317
Supporting Variants
Samples
Known GenesZNF346
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)nssv15908044
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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