A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450984



Internal ID229177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240674552..240770308hg38UCSC Ensembl
chr2:241613969..241709725hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3895757
hg1995757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926522
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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