A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899638



Internal ID535
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 StatusS
Merged Variantsnsv5445146
Supporting Variants
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)nssv16899638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002811


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer