A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983285



Internal ID21892628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248560880..248602854hg38UCSC Ensembl
chr1:248724181..248766155hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3841975
hg1941975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536034
Samples
Known GenesOR2T10, OR2T34
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983285
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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