A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916044



Internal ID11411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71023619..71050000hg38UCSC Ensembl
chr2:71250749..71277130hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3826382
hg1926382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439526
Supporting Variants
Samples
Known GenesOR7E91P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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