A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788286



Internal ID19513637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72449386..72485963hg38UCSC Ensembl
chr15:72741727..72778304hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3836578
hg1936578
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333157
Supporting Variants
Samples
Known GenesARIH1
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)nssv15788286
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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