A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566127



Internal ID21514448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231697389..231697475hg38UCSC Ensembl
chr2:232562099..232562185hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110202
SamplesHG00096
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566127
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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