A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743767



Internal ID20519756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8885606..8885787hg38UCSC Ensembl
chr17:8788923..8789104hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291381
Samples
Known GenesPIK3R5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743767
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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