A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6575795



Internal ID20948866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057683..75220512hg38UCSC Ensembl
chr12:66451463..75614292hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg389162830
hg199162830
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1578n223
Supporting Variantsnssv18232790
Samples
Known GenesATXN7L3B, BEST3, CAND1, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GRIP1, HELB, IFNG, IFNG-AS1, IL22, IL26, IRAK3, KCNC2, 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)nsv6575795
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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