A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562593



Internal ID19945795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9856896..10832419hg38UCSC Ensembl
chr4:9858520..10834043hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38975524
hg19975524
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790122
Samples
Known GenesCLNK, MIR3138, SLC2A9, WDR1, ZNF518B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4562593
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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