A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571091



Internal ID21519464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226816832..226817001hg38UCSC Ensembl
chr2:227681548..227681717hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111644
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571091
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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