A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448078



Internal ID226363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168227863..168237761hg38UCSC Ensembl
chr2:169084373..169094271hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg389899
hg199899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926800
Samples
Known GenesSTK39
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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