A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387729



Internal ID22445599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78397289..78397392hg38UCSC Ensembl
chr17:76393370..76393473hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931964
Supporting Variants
Samples
Known GenesPGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387729
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.079


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