A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450311



Internal ID228521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170472022..170472093hg38UCSC Ensembl
chr3:170189810..170189881hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941831
Samples
Known GenesSLC7A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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