A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405903



Internal ID185244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225445377..225445403hg38UCSC Ensembl
chr2:226310093..226310119hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925685
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405903
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