A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645220



Internal ID21593525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18359694..18359694hg38UCSC Ensembl
chr17:18263008..18263008hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097435
SamplesNA18534
Known GenesSHMT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645220
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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