A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1578n223



Internal ID22804546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057593..76009153hg38UCSC Ensembl
chr12:66451373..76402933hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg389951561
hg199951561
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6579681, nsv6582770, nsv6578333, nsv6592639, nsv6589385, nsv6575795, nsv6577012, nsv6592247, nsv6576583, nsv6593094, nsv6584449
Samples
Known GenesATXN7L3B, BEST3, CAND1, CAPS2, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GLIPR1, GLIPR1L1, GLIPR1L2, GRIP1, HELB, IFNG, IFNG-AS1, IL22, IL26, IRAK3, KCNC2, KCNMB4, KRR1, LGR5, LLPH, LOC100130075, LOC100507175, LOC100507250, LOC100507377, 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)dgv1578n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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