A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942682



Internal ID22718124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8372798..8378199hg38UCSC Ensembl
chr17:8276116..8281517hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380704
Samples
Known GenesRPL26
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942682
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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