A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5589196



Internal ID21537760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80217586..80217638hg38UCSC Ensembl
chr17:78191385..78191437hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086091
SamplesNA19239
Known GenesSGSH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5589196
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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