A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922992



Internal ID16086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206221348..206221422hg38UCSC Ensembl
chr2:207086072..207086146hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445581
Supporting Variants
Samples
Known GenesGPR1-AS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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