A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550943



Internal ID324441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104195038..104195068hg38UCSC Ensembl
chr7:103835486..103835516hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000858
Samples
Known GenesORC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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