A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400256



Internal ID179639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172724256..172724307hg38UCSC Ensembl
chr2:173588984..173589035hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730043
Samples
Known GenesRAPGEF4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400256
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