A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1568n223



Internal ID22804536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64242060..66057684hg38UCSC Ensembl
chr12:64635840..66451464hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381815625
hg191815625
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6582010, nsv6576310, nsv6593037, nsv6588074, nsv6583636, nsv6576953
Samples
Known GenesC12orf56, FLJ41278, GNS, HMGA2, LEMD3, MIR548C, MIR548Z, MIR6074, MSRB3, RASSF3, RPSAP52, TBC1D30, TBK1, WIF1, XPOT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1568n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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