A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559196



Internal ID19942391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51176082..54825444hg38UCSC Ensembl
chr12:51569865..55219228hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383649363
hg193649364
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090790
Samples
Known GenesAAAS, ACVR1B, ACVRL1, AMHR2, ANKRD33, ATF7, ATP5G2, BIN2, C12orf10, C12orf44, C12orf80, CALCOCO1, CBX5, CELA1, CISTR-ACT, COPZ1, CSAD, DAZAP2, DCD, EIF4B, ESPL1, FIGNL2, FLJ12825, GALNT6, GLYCAM1, GPR84, GRASP, GTSF1, HNRNPA1, HNRNPA1P10, HOTAIR, HOXC10, HOXC11, HOXC12, HOXC13, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC-AS1, HOXC-AS2, HOXC-AS5, IGFBP6, ITGA5, ITGB7, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LACRT, LINC00592, LOC100240734, LOC100240735, LOC100652999, LOC283335, LOC400043, MAP3K12, MFSD5, MIR148B, MIR196A2, MIR3198-2, MIR615, MIR6757, NCKAP1L, NFE2, NPFF, NR4A1, PCBP2, PDE1B, PFDN5, POU6F1, PPP1R1A, PRR13, RARG, SCN8A, SLC4A8, SMAGP, SMUG1, SOAT2, SP1, SP7, SPRYD3, TARBP2, TENC1, ZNF385A, ZNF740
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)nsv4559196
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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