A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449947



Internal ID228167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169980818..169981207hg38UCSC Ensembl
chr3:169698606..169698995hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942462
Samples
Known GenesSEC62
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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