A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424810



Internal ID203786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10116236..10116340hg38UCSC Ensembl
chr1:10176294..10176398hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891370
Samples
Known GenesUBE4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424810
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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