A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167521



Internal ID20039134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135562823..135563665hg38UCSC Ensembl
chr7:135247571..135248413hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925229
Samples
Known GenesNUP205
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 ID12345678
Accession Number(s)nsv4167521
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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