A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv448n206



Internal ID22755752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4983711..5773733hg38UCSC Ensembl
chr7:5023342..5813364hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38790023
hg19790023
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5554692, nsv5562206
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RBAK, RBAKDN, RBAK-RBAKDN, RNF216, RNF216-IT1, RNF216P1, SLC29A4, TNRC18, WIPI2, ZNF890P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv448n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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