A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528569



Internal ID304621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31293146..31293216hg38UCSC Ensembl
chr17:29620164..29620234hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217n206
Supporting Variantsnssv17712565
Samples
Known GenesNF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528569
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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