A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569554



Internal ID21517913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128671819..128671978hg38UCSC Ensembl
chr2:129429393..129429552hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108863
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569554
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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