A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425067



Internal ID204040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169501955..169505582hg38UCSC Ensembl
chr1:169471193..169474820hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383628
hg193628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891894
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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