A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992202



Internal ID21901545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185183900..185198085hg38UCSC Ensembl
chr3:184901688..184915873hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3814186
hg1914186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549475
Samples
Known GenesEHHADH, EHHADH-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992202
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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