A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969749



Internal ID22744684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69198309..69519167hg38UCSC Ensembl
chr4:70064027..70384885hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38320859
hg19320859
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427001
Samples
Known GenesUGT2B11, UGT2B28, UGT2B4
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969749
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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