A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523725



Internal ID299950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29455163..29457403hg38UCSC Ensembl
chr17:27782181..27784421hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712430
Samples
Known GenesTAOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523725
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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