A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752520



Internal ID20528380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189896192..189896192hg38UCSC Ensembl
chr2:190760918..190760918hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264112
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752520
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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