A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514347



Internal ID290845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27822744..27822801hg38UCSC Ensembl
chr17:26149770..26149827hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712313
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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