A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595209



Internal ID20968280
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 StatusM
Merged Variantsdgv1579n223
Supporting Variantsnssv18219731
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)nsv6595209
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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