A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4766480



Internal ID20542340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157554207..157554207hg38UCSC Ensembl
chr2:158410719..158410719hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287060
Samples
Known GenesACVR1C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4766480
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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