A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393798



Internal ID22451668
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 StatusS
Merged Variantsnsv5979865
Supporting Variants
Samples
Known GenesCRYBB2, CRYBB3, IGLL3P, KIAA1671, LOC100128531, LRP5L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393798
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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