A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435425



Internal ID214072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225588890..225589187hg38UCSC Ensembl
chr2:226453606..226453903hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925699
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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