A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443625



Internal ID222018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69104118..69128329hg38UCSC Ensembl
chr3:69153269..69177480hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3824212
hg1924212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934044
Samples
Known GenesARL6IP5, LMOD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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