A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4155761



Internal ID20377248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144845054..144847335hg38UCSC Ensembl
chr8:146070439..146072720hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15934894
Samples
Known GenesZNF7
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)nsv4155761
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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