A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6582458



Internal ID20955529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057684..70733374hg38UCSC Ensembl
chr12:66451464..71127154hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384675691
hg194675691
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1579n223
Supporting Variantsnssv18219348
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)nsv6582458
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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