A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090145



Internal ID19815415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89219135..91269986hg38UCSC Ensembl
chr1:89684818..91735543hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382050852
hg192050726
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4315042
Supporting Variants
Samples
Known GenesBARHL2, FLJ27354, GBP1P1, GBP5, GBP6, GEMIN8P4, HFM1, LOC729930, LRRC8B, LRRC8C, LRRC8D, ZNF326, ZNF644
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)nssv16090145
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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