A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4105n223



Internal ID22807073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129979633..131544454hg38UCSC Ensembl
chr2:130737206..132302027hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381564822
hg191564822
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6550740, nsv6552437, nsv6536334, nsv6552768, nsv6544146, nsv6542883, nsv6550481, nsv6555058, nsv6548377, nsv6549000, nsv6553476
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LINC01120, LOC150776, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4105n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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