A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615426



Internal ID21563731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467458..106467458hg38UCSC Ensembl
chr2:107083914..107083914hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107336
SamplesHG00732
Known GenesRGPD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615426
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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