A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447652



Internal ID225948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42258353..42258434hg38UCSC Ensembl
chr3:42299845..42299926hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933630
Samples
Known GenesCCK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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