A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516720



Internal ID293168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38984421..38988607hg38UCSC Ensembl
chr17:37140674..37144860hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384187
hg194187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713000
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer