A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5842981



Internal ID22617916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40779092..40786714hg38UCSC Ensembl
chr5:40779194..40786816hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387623
hg197623
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17496695
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5842981
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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