A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557263



Internal ID330364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17251812..17332027hg38UCSC Ensembl
chr17:17155126..17235341hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3880216
hg1980216
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711840
Samples
Known GenesCOPS3, NT5M
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557263
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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