A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484490



Internal ID22542399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129426412..129445475hg38UCSC Ensembl
chr3:129145255..129164318hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3819064
hg1919064
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833985
Supporting Variants
Samples
Known GenesEFCAB12, IFT122, MBD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484490
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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