A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760578



Internal ID20536438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68495900..68495900hg38UCSC Ensembl
chr17:66492041..66492041hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275051
Samples
Known GenesPRKAR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760578
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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