A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752209



Internal ID20528069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68431743..68431743hg38UCSC Ensembl
chr17:66427884..66427884hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269726
Samples
Known GenesPRKAR1A, WIPI1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752209
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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