A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091131



Internal ID19816392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224174491..227005381hg38UCSC Ensembl
chr2:225039208..227870097hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382830891
hg192830890
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318860
Supporting Variants
Samples
Known GenesCOL4A4, CUL3, DOCK10, FAM124B, IRS1, LOC646736, MIR4439, MIR548AR, MIR5702, NYAP2, RHBDD1
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)nssv16091131
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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