A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568513



Internal ID21516862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137931285..137931407hg38UCSC Ensembl
chr2:138688855..138688977hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109259
SamplesHG03732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568513
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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