A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906118



Internal ID22681313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129426491..129446350hg38UCSC Ensembl
chr3:129145334..129165193hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3819860
hg1919860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408595
Samples
Known GenesEFCAB12, IFT122, MBD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906118
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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