A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4554319



Internal ID19937508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91087170..91087171hg38UCSC Ensembl
chr5:90382987..90382988hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16063035
Samples
Known GenesGPR98
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)nsv4554319
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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