A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4202598



Internal ID20064365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43757883..43759040hg38UCSC Ensembl
chr12:44151686..44152843hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15808463
Samples
Known GenesIRAK4, PUS7L
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)nsv4202598
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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