A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448817



Internal ID227075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9412587..9417483hg38UCSC Ensembl
chr3:9454271..9459167hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg384897
hg194897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930804
Samples
Known GenesSETD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448817
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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