A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6588074



Internal ID20961145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64244308..66057684hg38UCSC Ensembl
chr12:64638088..66451464hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381813377
hg191813377
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1568n223
Supporting Variantsnssv18235044
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)nsv6588074
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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