A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220093



Internal ID20787133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057593..72798778hg38UCSC Ensembl
chr12:66451373..73192558hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg386741186
hg196741186
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6594036
Supporting Variants
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)nssv18220093
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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