A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578672



Internal ID21527143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189966060..189966124hg38UCSC Ensembl
chr3:189683849..189683913hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134217
SamplesHG03125
Known GenesLEPREL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578672
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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