A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618800



Internal ID21567105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180507331..180507331hg38UCSC Ensembl
chr2:181372058..181372058hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110497
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618800
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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