A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790287



Internal ID19515658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108024005..108029795hg38UCSC Ensembl
chr4:108945161..108950951hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385791
hg195791
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563840
Supporting Variants
Samples
Known GenesHADH
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)nssv15790287
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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