A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421702



Internal ID200766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152146234..152146340hg38UCSC Ensembl
chr1:152118710..152118816hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891171
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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