A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833985



Internal ID22608920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129426412..129445475hg38UCSC Ensembl
chr3:129145255..129164318hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3819064
hg1919064
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17484490
Samples
Known GenesEFCAB12, IFT122, MBD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833985
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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