A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1577n223



Internal ID22804545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057593..73574620hg38UCSC Ensembl
chr12:66451373..73968400hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg387517028
hg197517028
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6590519, nsv6594036, nsv6584947, nsv6583665, nsv6576335
Samples
Known GenesBEST3, CAND1, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GRIP1, HELB, IFNG, IFNG-AS1, IL22, IL26, IRAK3, KCNMB4, LGR5, LLPH, LOC100130075, LOC100507175, LOC100507250, LRRC10, LYZ, MDM1, MDM2, MIR1279, MIR3913-1, MIR3913-2, MRS2P2, NUP107, PTPRB, PTPRR, RAB21, RAB3IP, RAP1B, SLC35E3, SNORA70G, TBC1D15, THAP2, TMBIM4, TMEM19, TPH2, TRHDE, TRHDE-AS1, TSPAN8, YEATS4, ZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1577n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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