A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526735



Internal ID302853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43193811..43193892hg38UCSC Ensembl
chr17:41345828..41345909hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724564
Samples
Known GenesNBR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526735
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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