A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084354



Internal ID21490779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55038729..55038729hg38UCSC Ensembl
chr17:53116090..53116090hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5660396
Supporting Variants
SamplesNA19238
Known GenesSTXBP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084354
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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