A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945517



Internal ID22720996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58100139..58139121hg38UCSC Ensembl
chr17:56177500..56216482hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3838983
hg1938983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372299
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945517
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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