A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469227



Internal ID247016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148872768..148872841hg38UCSC Ensembl
chr5:148252331..148252404hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974708
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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