A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4124586



Internal ID20008110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175495966..175500776hg38UCSC Ensembl
chr5:174922969..174927779hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384811
hg194811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2082n166
Supporting Variantsnssv15905735
Samples
Known GenesSFXN1
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)nsv4124586
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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