A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6584947



Internal ID20958018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057683..73556799hg38UCSC Ensembl
chr12:66451463..73950579hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg387499117
hg197499117
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1577n223
Supporting Variantsnssv18224134
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)nsv6584947
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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