A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230486



Internal ID20797526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057683..71691536hg38UCSC Ensembl
chr12:66451463..72085316hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg385633854
hg195633854
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6585634
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, NUP107, PTPRB, PTPRR, RAB3IP, RAP1B, SLC35E3, SNORA70G, THAP2, TMBIM4, TMEM19, TSPAN8, YEATS4, ZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230486
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00013


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