A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6592247



Internal ID20965318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057683..74487665hg38UCSC Ensembl
chr12:66451463..74881445hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg388429983
hg198429983
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1578n223
Supporting Variantsnssv18236884
Samples
Known GenesBEST3, CAND1, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GRIP1, HELB, IFNG, IFNG-AS1, IL22, IL26, IRAK3, KCNMB4, 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)nsv6592247
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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