A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15932660



Internal ID20004600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80818571..80826743hg38UCSC Ensembl
chr8:81730806..81738978hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg388173
hg198173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164040
Supporting Variants
Samples
Known GenesZNF704
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)nssv15932660
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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