A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537945



Internal ID313131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67106299..67106333hg38UCSC Ensembl
chr17:65102415..65102449hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715519
Samples
Known GenesHELZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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