A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445146



Internal ID223504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247660364..248129682hg38UCSC Ensembl
chr1:247823666..248292984hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38469319
hg19469319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899638
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2T8, OR2W3, OR6F1, TRIM58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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