A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16277135



Internal ID20486353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40785984..40788941hg38UCSC Ensembl
chr5:40786086..40789043hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745962
Supporting Variants
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16277135
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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