A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558787



Internal ID19941983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93904823..94557073hg38UCSC Ensembl
chr1:94370379..95022629hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38652251
hg19652251
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090147
Samples
Known GenesABCA4, ABCD3, ARHGAP29, F3, GCLM
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)nsv4558787
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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