A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974969



Internal ID22749904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5494057..5495733hg38UCSC Ensembl
chr7:5533688..5535364hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436759
Samples
Known GenesFBXL18
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974969
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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