A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5667536



Internal ID21615841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240674168..240700557hg38UCSC Ensembl
chr2:241613585..241639974hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3826390
hg1926390
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112116
Samples
Known GenesAQP12A, AQP12B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5667536
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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