A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541930



Internal ID316438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235747939..235747965hg38UCSC Ensembl
chr2:236656583..236656609hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928683
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541930
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