A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889034



Internal ID22664045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226143818..226143895hg38UCSC Ensembl
chr2:227008534..227008611hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404794
Samples
Known GenesLOC646736
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889034
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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