A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573495



Internal ID21521901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219159514..219159575hg38UCSC Ensembl
chr2:220024236..220024297hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111455
SamplesHG03065
Known GenesNHEJ1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573495
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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