A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790196



Internal ID19515566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56234981..56513878hg38UCSC Ensembl
chr4:57101147..57380044hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38278898
hg19278898
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337474
Supporting Variants
Samples
Known GenesAASDH, ARL9, KIAA1211, PAICS, PPAT, SRP72
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)nssv15790196
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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