A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972113



Internal ID22747048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49632857..49656407hg38UCSC Ensembl
chr22:50026505..50050055hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3823551
hg1923551
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392815
Samples
Known GenesC22orf34
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972113
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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