A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4328272



Internal ID20185486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109421867..114023504hg38UCSC Ensembl
chr4:110343023..114944660hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384601638
hg194601638
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091326
Samples
Known GenesALPK1, ANK2, AP1AR, ARSJ, C4orf21, C4orf32, CAMK2D, CASP6, CCDC109B, CFI, EGF, ELOVL6, ENPEP, GAR1, LARP7, LRIT3, MIR1243, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR8082, NEUROG2, PITX2, PLA2G12A, RRH, SEC24B, SEC24B-AS1, TIFA
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 ID32461652
Accession Number(s)nsv4328272
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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