A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610951



Internal ID21559256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51504974..51504974hg38UCSC Ensembl
chr1:51970646..51970646hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383054
hg193054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065406
SamplesHG02587
Known GenesEPS15
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610951
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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