A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619284



Internal ID21567589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203948291..203948291hg38UCSC Ensembl
chr2:204813014..204813014hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111178
SamplesHG02587
Known GenesICOS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619284
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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