A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121248



Internal ID20352495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186243623..186251624hg38UCSC Ensembl
chr4:187164777..187172778hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg388002
hg198002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15897233
Samples
Known GenesKLKB1
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)nsv4121248
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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