A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449093



Internal ID227342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151312516..151314759hg38UCSC Ensembl
chr3:151030304..151032547hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382244
hg192244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940590
Samples
Known GenesGPR87, MED12L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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