A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3812n223



Internal ID22806780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24403241..32916584hg38UCSC Ensembl
chr2:24626110..33141651hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg388513344
hg198515542
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6546927, nsv6538559, nsv6543735
Samples
Known GenesABHD1, ADCY3, AGBL5, ALK, ASXL2, ATRAID, BIRC6, BRE, BRE-AS1, C2orf16, C2orf53, C2orf70, C2orf71, CAD, CAPN13, CAPN14, CCDC121, CENPA, CENPO, CGREF1, CIB4, CLIP4, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, EFR3B, EHD3, EIF2B4, EMILIN1, EPT1, FAM179A, FLJ31356, FNDC4, FOSL2, FTH1P3, GALNT14, GAREML, GCKR, GPN1, GPR113, GTF3C2, HADHA, HADHB, IFT172, KCNK3, KHK, KIF3C, KRTCAP3, LBH, LCLAT1, LINC00486, LOC100505624, LOC100505716, MAPRE3, MEMO1, MIR1301, MIR4263, MIR4765, MIR558, MPV17, MRPL33, NCOA1, NLRC4, NRBP1, OST4, OTOF, PLB1, POMC, PPM1G, PPP1CB, PREB, PTRHD1, RAB10, RBKS, SLC30A3, SLC30A6, SLC35F6, SLC4A1AP, SLC5A6, SNORD53, SNORD92, SNX17, SPAST, SPDYA, SRD5A2, SUPT7L, TCF23, TMEM214, TRIM54, TRMT61B, TTC27, UCN, WDR43, XDH, YIPF4, YPEL5, ZNF512, ZNF513
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3812n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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