A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516251



Internal ID292713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72769694..72800418hg38UCSC Ensembl
chr17:70765833..70796557hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3830725
hg1930725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714450
Samples
Known GenesSLC39A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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