A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4736791



Internal ID20512744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40794511..40794869hg38UCSC Ensembl
chr5:40794613..40794971hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271171
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4736791
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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