A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091358



Internal ID19816616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77339476..78646081hg38UCSC Ensembl
chr5:76635301..77941904hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381306606
hg191306604
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4327673
Supporting Variants
Samples
Known GenesAP3B1, LHFPL2, LOC101929154, LOC728769, OTP, PDE8B, SCAMP1, TBCA, WDR41
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)nssv16091358
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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