A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378468



Internal ID22436338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55486201..55490018hg38UCSC Ensembl
chr17:53563562..53567379hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383818
hg193818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946060
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378468
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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