A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985248



Internal ID19710502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129844538..130112458hg38UCSC Ensembl
chr8:130856784..131124704hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38267921
hg19267921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4161224
Supporting Variants
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
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)nssv15985248
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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