A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532347



Internal ID308271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12259972..12260039hg38UCSC Ensembl
chr17:12163289..12163356hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711478
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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