A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568314



Internal ID21516661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228619773..228619897hg38UCSC Ensembl
chr2:229484489..229484613hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110183
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568314
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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