A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5836290



Internal ID22611225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46977052..46981047hg38UCSC Ensembl
chr3:47018542..47022537hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383996
hg193996
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17492499
Samples
Known GenesCCDC12, NBEAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5836290
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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