A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612366



Internal ID21560671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45637522..45637522hg38UCSC Ensembl
chr1:46103194..46103194hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065848
SamplesHG00731
Known GenesGPBP1L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612366
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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