A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444157



Internal ID222537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25782606..25782686hg38UCSC Ensembl
chr3:25824097..25824177hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930701
Samples
Known GenesNGLY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444157
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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