A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609380



Internal ID21557685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392123..181392123hg38UCSC Ensembl
chr3:181109911..181109911hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135544
SamplesHG00731
Known GenesSOX2-OT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609380
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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