A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447366



Internal ID225671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220852742..220852864hg38UCSC Ensembl
chr1:221026084..221026206hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897270
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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