A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263494



Internal ID20472712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18860007..18860318hg38UCSC Ensembl
chr17:18763320..18763631hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4737763
Supporting Variants
Samples
Known GenesPRPSAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263494
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