A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4322351



Internal ID19838405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5111802..11290661hg38UCSC Ensembl
chr3:5153487..11332347hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg386178860
hg196178861
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091157
Samples
Known GenesARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CIDECP, CPNE9, CRELD1, EDEM1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LMCD1, LMCD1-AS1, LOC401052, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETD5-AS1, SLC6A1, SLC6A11, SLC6A1-AS1, SRGAP3, SRGAP3-AS3, SSUH2, TADA3, TATDN2, THUMPD3, TTLL3, VHL
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)nsv4322351
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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