A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236754



Internal ID20803794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057684..75476019hg38UCSC Ensembl
chr12:66451464..75869799hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg389418336
hg199418336
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6577012
Supporting Variants
Samples
Known GenesATXN7L3B, BEST3, CAND1, CAPS2, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GLIPR1L1, GLIPR1L2, 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)nssv18236754
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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