A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452524



Internal ID230675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225589292..225598361hg38UCSC Ensembl
chr2:226454008..226463077hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389070
hg199070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925700
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452524
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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