A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522428



Internal ID298696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78577705..78601618hg38UCSC Ensembl
chr17:76573787..76597700hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3823914
hg1923914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714869
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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