A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4316382



Internal ID19838021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22112004..30485805hg38UCSC Ensembl
chr22:22466414..30881792hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg388373802
hg198415379
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091290
Samples
Known GenesADORA2A, ADORA2A-AS1, ADRBK2, AP1B1, ASCC2, ASPHD2, BCR, BCRP3, BMS1P20, C22orf15, C22orf31, C22orf43, CABIN1, CABP7, CCDC117, CCDC157, CES5AP1, CHCHD10, CHEK2, CRYBA4, CRYBB1, CRYBB2, CRYBB2P1, CRYBB3, DDT, DDTL, DERL3, EMID1, EWSR1, FAM211B, FBXW4P1, GAS2L1, GATSL3, GGT1, GGT5, GGTLC2, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, HORMAD2, HPS4, HSCB, IGLL1, IGLL3P, IGLL5, KIAA1656, KIAA1671, KREMEN1, LIF, LOC100128531, LOC284889, LOC391322, LOC648691, LRP5L, MIAT, MIF, MIR3199-1, MIR3199-2, MIR3653, MIR548J, MIR5739, MIR650, MIR6817, MIR6818, MMP11, MN1, MTFP1, MTMR3, MYO18B, NEFH, NF2, NIPSNAP1, OSM, PITPNB, PIWIL3, POM121L10P, POM121L1P, POM121L9P, PRAME, RAB36, RASL10A, RFPL1, RFPL1S, RGL4, RHBDD3, RNF215, RTDR1, SDC4P, SEC14L2, SEC14L3, SEZ6L, SF3A1, SGSM1, SLC2A11, SMARCB1, SNORD125, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, TBC1D10A, TFIP11, THOC5, TMEM211, TOP1P2, TPST2, TTC28, TTC28-AS1, UPB1, UQCR10, VPREB1, VPREB3, XBP1, ZDHHC8P1, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNRF3, ZNRF3-AS1
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)nsv4316382
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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