A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1557n223



Internal ID22804525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62817108..66057684hg38UCSC Ensembl
chr12:63210888..66451464hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg383240577
hg193240577
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6588794, nsv6584270, nsv6578479
Samples
Known GenesAVPR1A, C12orf56, C12orf66, DPY19L2, FLJ41278, GNS, HMGA2, LEMD3, MIR548C, MIR548Z, MIR6074, MSRB3, PPM1H, RASSF3, RPSAP52, SRGAP1, TBC1D30, TBK1, TMEM5, WIF1, XPOT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1557n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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