A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219731



Internal ID20786771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057683..70685410hg38UCSC Ensembl
chr12:66451463..71079190hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384627728
hg194627728
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6595209
Supporting Variants
Samples
Known GenesBEST3, CAND1, CCT2, CNOT2, CPM, CPSF6, DYRK2, FRS2, GRIP1, HELB, IFNG, IFNG-AS1, IL22, IL26, IRAK3, KCNMB4, LLPH, LOC100130075, LOC100507175, LOC100507250, LRRC10, LYZ, MDM1, MDM2, MIR1279, MIR3913-1, MIR3913-2, NUP107, PTPRB, PTPRR, RAB3IP, RAP1B, SLC35E3, SNORA70G, TMBIM4, YEATS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219731
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer