A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6546n223



Internal ID22809514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4979239..5878192hg38UCSC Ensembl
chr7:5018870..5917823hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38898954
hg19898954
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6559174, nsv6565983, nsv6574001, nsv6566594, nsv6575540, nsv6570008
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RBAK, RBAKDN, RBAK-RBAKDN, RNF216, RNF216-IT1, RNF216P1, SLC29A4, TNRC18, WIPI2, ZNF815P, ZNF890P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv6546n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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