A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592360



Internal ID21540941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2282726..2282799hg38UCSC Ensembl
chr16:2332727..2332800hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082742
SamplesHG00732
Known GenesABCA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592360
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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