A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15934666



Internal ID20006606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143675137..143692313hg38UCSC Ensembl
chr8:144757307..144774483hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3817177
hg1917177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4152541
Supporting Variants
Samples
Known GenesZNF707
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)nssv15934666
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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