A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590054



Internal ID21538622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25218721..25219877hg38UCSC Ensembl
chr16:25230042..25231198hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095822
SamplesNA19238
Known GenesAQP8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590054
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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