A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979865



Internal ID22754800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25000654..25408447hg38UCSC Ensembl
chr22:25396621..25804414hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38407794
hg19407794
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393798
Samples
Known GenesCRYBB2, CRYBB3, IGLL3P, KIAA1671, LOC100128531, LRP5L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979865
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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