A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1546n223



Internal ID22804514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56201970..66057684hg38UCSC Ensembl
chr12:56595754..66451464hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg389855715
hg199855711
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6577543, nsv6587872, nsv6592389, nsv6589195, nsv6578359, nsv6584140, nsv6577024, nsv6590334, nsv6576885, nsv6595151, nsv6592643
Samples
Known GenesAGAP2, AGAP2-AS1, ANKRD52, APOF, ARHGAP9, ARHGEF25, ATP5B, AVIL, AVPR1A, B4GALNT1, BAZ2A, C12orf56, C12orf61, C12orf66, CDK4, CNPY2, COQ10A, CS, CTDSP2, CYP27B1, DCTN2, DDIT3, DPY19L2, DTX3, FAM19A2, FLJ41278, GLI1, GLS2, GNS, GPR182, HMGA2, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LEMD3, LOC100506844, LRIG3, LRP1, MARCH9, MARS, MBD6, METTL1, METTL21B, MIP, MIR1228, MIR26A2, MIR548C, MIR548Z, MIR6074, MIR6125, MIR6758, MIR6759, MIRLET7I, MON2, MSRB3, MYO1A, NAB2, NABP2, NACA, NDUFA4L2, NXPH4, OS9, PAN2, PIP4K2C, PPM1H, PRIM1, PTGES3, R3HDM2, RASSF3, RBMS2, RDH16, RNF41, RPSAP52, SDR9C7, SHMT2, SLC16A7, SLC26A10, SLC39A5, SNORD59A, SNORD59B, SPRYD4, SRGAP1, STAC3, STAT2, STAT6, TAC3, TBC1D30, TBK1, TIMELESS, TMEM194A, TMEM5, TSFM, TSPAN31, USP15, WIF1, XPOT, XRCC6BP1, ZBTB39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1546n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer