A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451308



Internal ID229494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124772187..124772288hg38UCSC Ensembl
chr3:124491034..124491135hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938141
Samples
Known GenesITGB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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