A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752942



Internal ID20528802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:26136130..26136130hg38UCSC Ensembl
chr21:27508448..27508448hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278705
Samples
Known GenesAPP
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752942
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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