A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541746



Internal ID316307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18297449..18297489hg38UCSC Ensembl
chr17:18200763..18200803hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711897
Samples
Known GenesTOP3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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